5. Mechanisms of disordered granulopoiesis in congenital neutropenia (Q36543836)

14 August 2017

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title

5. Mechanisms of disordered granulopoiesis in congenital neutropenia (English)

1 reference

14 August 2017

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David S Grenda

1

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14 August 2017

Daniel C Link

series ordinal

2

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14 August 2017

publication date

1 January 2006

1 reference

Current Topics in Developmental Biology

14 August 2017

published in

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14 August 2017

volume

74

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14 August 2017

page(s)

133-176

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The chemokine SDF-1 is a chemoattractant for human CD34 hematopoietic progenitor cells and provides a new mechanism to explain the mobilization of CD34 progenitors to peripheral blood.

14 August 2017

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Granulocyte colony-stimulating factor-responsive chronic neutropenia in cartilage-hair hypoplasia

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Congenital neutropenia

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Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease

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7 January 2021

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

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7 January 2021

Long-term follow-up of granulocyte colony-stimulating factor receptor mutations in patients with severe congenital neutropenia: implications for leukaemogenesis and therapy.

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7 January 2021

Impaired survival of bone marrow hematopoietic progenitor cells in cyclic neutropenia

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7 January 2021

Cellular and molecular abnormalities in severe congenital neutropenia predisposing to leukemia

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7 January 2021

The Shwachman-Diamond SBDS protein localizes to the nucleolus

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7 January 2021

Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome

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7 January 2021

WHIM syndromes with different genetic anomalies are accounted for by impaired CXCR4 desensitization to CXCL12

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7 January 2021

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

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7 January 2021

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

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7 January 2021

Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

A novel X-linked gene, G4.5. is responsible for Barth syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene

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7 January 2021

The lymphocyte chemoattractant SDF-1 is a ligand for LESTR/fusin and blocks HIV-1 entry

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7 January 2021

A highly efficacious lymphocyte chemoattractant, stromal cell-derived factor 1 (SDF-1)

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7 January 2021

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7 January 2021

CONGENITAL HYPOPLASIA OF THE EXOCRINE PANCREAS.

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7 January 2021

Myelokathexis: chronic neutropenia with hyperplastic bone marrow and hypersegmented neutrophils in two siblings

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https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in SBDS are associated with Shwachman-Diamond syndrome

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7 January 2021

Neutropenia: causes and consequences

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https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Dominantly inherited severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Rarity of dominant-negative mutations of the G-CSF receptor in patients with blast crisis of chronic myeloid leukemia or de novo acute leukemia.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French neutropenia register

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Chemoattractants induce a rapid and transient upregulation of monocyte alpha4 integrin affinity for vascular cell adhesion molecule 1 which mediates arrest: an early step in the process of emigration

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Inactivation of Fac in mice produces inducible chromosomal instability and reduced fertility reminiscent of Fanconi anaemia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Shwachman's syndrome: pathomorphosis and long-term outcome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

A big development for a small RNA

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

CXCR4 mutations in WHIM syndrome: a misguided immune system?

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Shwachman-Diamond syndrome marrow cells show abnormally increased apoptosis mediated through the Fas pathway

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Combined corticosteroid/granulocyte colony-stimulating factor (G-CSF) therapy in the treatment of severe congenital neutropenia unresponsive to G-CSF: Activated glucocorticoid receptors synergize with G-CSF signals

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Immune function in patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Novel mechanism of G-CSF refractoriness in patients with severe congenital neutropenia.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Neutrophil elastase enzymatically antagonizes the in vitro action of G-CSF: implications for the regulation of granulopoiesis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Functional profiling of the Saccharomyces cerevisiae genome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Barth syndrome: TAZ gene mutations, mRNAs, and evolution

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mice expressing a neutrophil elastase mutation derived from patients with severe congenital neutropenia have normal granulopoiesis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

A syndrome associating partial albinism and immunodeficiency

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Regulation of human chemokine receptors CXCR4. Role of phosphorylation in desensitization and internalization

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Occurrence of periodic oscillations in the differential blood counts of congenital, idiopathic, and cyclical neutropenic patients before and during treatment with G-CSF.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Congenital gigantism of peroxidase granules; the first case ever reported of qualitative abnormity of peroxidase.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Intrinsic requirement for zinc finger transcription factor Gfi-1 in neutrophil differentiation

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Proteolytic cleavage of granulocyte colony‐stimulating factor and its receptor by neutrophil elastase induces growth inhibition and decreased cell surface expression of the granulocyte colony‐stimulating factor receptor

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Transport vesicles: coats of many colours

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Defective in-vitro colony formation of haematopoietic progenitors in patients with cartilage-hair hypoplasia and history of anaemia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Inflammatory reactions and severe neutropenia in mice lacking the transcriptional repressor Gfi1

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Dysregulation of transcriptions in primary granule constituents during myeloid proliferation and differentiation in patients with severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Protean Manifestations of Mitochondrial Diseases: A Minireview

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Giant granules of neutrophils in Chediak-Higashi syndrome are derived from azurophil granules but not from specific and gelatinase granules

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Prediction of the archaeal exosome and its connections with the proteasome and the translation and transcription machineries by a comparative-genomic approach

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

CHRONIC IDIOPATHIC GRANULOCYTOPENIA.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Hematologic abnormalities in Shwachman Diamond syndrome: lack of genotype-phenotype relationship

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Magnetic resonance imaging for diagnosis of Shwachman's syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Stromal cell-derived factor 1 regulates primitive hematopoiesis by suppressing apoptosis and by promoting G(0)/G(1) transition in CD34( ) cells: evidence for an autocrine/paracrine mechanism.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Disruption of the CXCR4/CXCL12 chemotactic interaction during hematopoietic stem cell mobilization induced by GCSF or cyclophosphamide

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Characterization of mutant neutrophil elastase in severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mobilization of hematopoietic progenitor cells in healthy volunteers by AMD3100, a CXCR4 antagonist

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Impaired production and increased apoptosis of neutrophils in granulocyte colony-stimulating factor receptor-deficient mice

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The kinetics of human granulopoiesis following treatment with granulocyte colony-stimulating factor in vivo.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Giant granules in leukocytes of the beige mouse

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Chronic neutropenia and abnormal cellular immunity in cartilage-hair hypoplasia.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Impaired B-lymphopoiesis, myelopoiesis, and derailed cerebellar neuron migration in CXCR4- and SDF-1-deficient mice

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The chemokine receptor CXCR4 is required for the retention of B lineage and granulocytic precursors within the bone marrow microenvironment

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The rate of apoptosis in post mitotic neutrophil precursors of normal and neutropenic humans.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Functional characterization of mitochondria in neutrophils: a role restricted to apoptosis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Cartilage-hair hypoplasia in Finland: epidemiological and genetic aspects of 107 patients

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Increased incidence of cancer in patients with cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Chemokines acting via CXCR2 and CXCR4 control the release of neutrophils from the bone marrow and their return following senescence

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Dyskeratosis congenita -- a disease of dysfunctional telomere maintenance

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Cardiolipin and apoptosis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The apoptosome pathway to caspase activation in primary human neutrophils exhibits dramatically reduced requirements for cytochrome C

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Defects of B-cell lymphopoiesis and bone-marrow myelopoiesis in mice lacking the CXC chemokine PBSF/SDF-1

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

RMRP mutations in Japanese patients with cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Barth syndrome may be due to an acyltransferase deficiency

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Identification of novel mutations in patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

'Myelokathexis'. Neutropenia with marrow hyperplasia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The CXC chemokine SDF-1 is the ligand for LESTR/fusin and prevents infection by T-cell-line-adapted HIV-1

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The molecular basis of leukocytosis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

X chromosome inactivation in carriers of Barth syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Two genes are responsible for Griscelli syndrome at the same 15q21 locus.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Identification of the murine beige gene by YAC complementation and positional cloning

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

G-CSF induces stem cell mobilization by decreasing bone marrow SDF-1 and up-regulating CXCR4.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Papillon-Lefèvre syndrome: correlating the molecular, cellular, and clinical consequences of cathepsin C/dipeptidyl peptidase I deficiency in humans

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major70A-->G mutation of the untranslated RMRP.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The major mutation in the RMRP gene causing CHH among the Amish is the same as that found in most Finnish cases

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Transcriptional regulation in myelopoiesis: Hematopoietic fate choice, myeloid differentiation, and leukemogenesis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The accelerated phase of Chediak-Higashi syndrome. An expression of the virus-associated hemophagocytic syndrome?

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

G-CSF is an essential regulator of neutrophil trafficking from the bone marrow to the blood

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

THE SYNDROME OF PANCREATIC INSUFFICIENCY AND BONE MARROW DYSFUNCTION.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Deletional Mutation of the External Domain of the Human Granulocyte Colony-Stimulating Factor Receptor in a Patient With Severe Chronic Neutropenia Refractory to Granulocyte Colony-Stimulating Factor

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Haematological abnormalities in Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Granulocyte/macrophage colony-stimulating factor-deficient mice show no major perturbation of hematopoiesis but develop a characteristic pulmonary pathology

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The molecular machinery for the biogenesis of lysosome-related organelles: lessons from Hermansky-Pudlak syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The chemotaxis defect of Shwachman-Diamond Syndrome leukocytes

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Linking albinism and immunity: the secrets of secretory lysosomes

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Cartilage-hair hypoplasia gene assigned to chromosome 9 by linkage analysis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Genetic homogeneity of cartilage-hair hypoplasia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Role of the CXCR4/SDF-1 chemokine axis in circulating neutrophil homeostasis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Dizygotic twin sisters with myelokathexis: mechanism of its neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Frequency of point mutations in the gene for the G&hyphen;CSF receptor in patients with chronic neutropenia undergoing G&hyphen;CSF therapy

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

SH2-containing protein tyrosine phosphatases SHP-1 and SHP-2 are dramatically increased at the protein level in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome)

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

1 reference

7 January 2021

Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Time course of increasing numbers of mutations in the granulocyte colony-stimulating factor receptor gene in a patient with congenital neutropenia who developed leukemia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Integrated high-resolution BAC, P1, and transcript map of the CHH region in chromosome 9p13.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Architecture and function of the human endonucleases RNase P and RNase MRP.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

GRK6 deficiency is associated with enhanced CXCR4-mediated neutrophil chemotaxis in vitro and impaired responsiveness to G-CSF in vivo.

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

The interplay of Fanconi anemia proteins in the DNA damage response

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Large-scale prediction of Saccharomyces cerevisiae gene function using overlapping transcriptional clusters

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Acute lymphoblastic leukemia in a patient with congenital neutropenia without G-CSF-R and ELA2 mutations

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

Kostmann syndrome and severe congenital neutropenia

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

"MYELOKATHEXIS"--A NEW FORM OF CHRONIC GRANULOCYTOPENIA. REPORT OF A CASE

1 reference

https://api.crossref.org/works/10.1016/S0070-2153(06)74005-4

7 January 2021

10.1016/S0070-2153(06)74005-4

Identifiers

DOI

1 reference

14 August 2017

1 reference