Dominant versus recessive: molecular mechanisms in metabolic disease (Q37302876)

19 August 2017

1 reference

title

Dominant versus recessive: molecular mechanisms in metabolic disease (English)

1 reference

19 August 2017

Johannes Zschocke

1

1 reference

19 August 2017

publication date

21 October 2008

1 reference

Journal of Inherited Metabolic Disease

19 August 2017

published in

1 reference

19 August 2017

volume

31

1 reference

19 August 2017

issue

5

1 reference

19 August 2017

page(s)

599-618

1 reference

Recommendations for the diagnosis and treatment of the acute porphyrias

19 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1007/S10545-008-1016-5

Mendel's principles of heredity : a defence

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-008-1016-5

Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-008-1016-5

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-008-1016-5

A molecular investigation of true dominance in Huntington's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-008-1016-5

Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007/S10545-008-1016-5

Clinical expression of familial hypercholesterolemia in clusters of mutations of the LDL receptor gene that cause a receptor-defective or receptor-negative phenotype

21 January 2018

1 reference

12 December 2020

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

1 reference

12 December 2020

Mutation and cancer: statistical study of retinoblastoma

1 reference

12 December 2020

A role for overdominant selection in phenylketonuria? Evidence from molecular data

1 reference

12 December 2020

5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up

1 reference

12 December 2020

Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene

1 reference

12 December 2020

Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease

1 reference

12 December 2020

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria

1 reference

12 December 2020

Non-phenylketonuria hyperphenylalaninaemia in Northern Ireland: frequent mutation allows screening and early diagnosis

1 reference

12 December 2020

The genetic aetiology of Silver-Russell syndrome

1 reference

12 December 2020

Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene

1 reference

12 December 2020

Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population

1 reference

12 December 2020

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency

1 reference

12 December 2020

Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases

1 reference

12 December 2020

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

1 reference

12 December 2020

Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: evidence of a phenotypic continuum between dominant and recessive forms

1 reference

12 December 2020

Decreased Red Cell Uroporphyrinogen I Synthetase Activity in Intermittent Acute Porphyria

1 reference

12 December 2020

Oxidative stress is induced in female carriers of X-linked adrenoleukodystrophy

1 reference

12 December 2020

Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy

1 reference

12 December 2020

Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor

1 reference

12 December 2020

Dopa-responsive dystonia induced by a recessive GTP cyclohydrolase I mutation.

1 reference

12 December 2020

The phenotype of ostensibly healthy women who are carriers for ornithine transcarbamylase deficiency

1 reference

12 December 2020

A retrospective study of a patient with homozygous form of acute intermittent porphyria

1 reference

12 December 2020

The structural basis for specificity in human ABO(H) blood group biosynthesis

1 reference

12 December 2020

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

1 reference

12 December 2020

Coexistence in the Same Family of Both Focal and Diffuse Forms of Hyperinsulinism

1 reference

12 December 2020

Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency

1 reference

12 December 2020

The detection in the heterozygote of the metabolic effect of the recessive gene for phenylketonuria.

1 reference

12 December 2020

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

12 December 2020

Galactosemia: deletion in the 5' upstream region of the GALT gene reduces promoter efficiency

1 reference

12 December 2020

[Is the protoporphyrinemic light dermatosis a clinical and genetic unit?]

1 reference

12 December 2020

The molecular basis of dominance.

1 reference

12 December 2020

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again

1 reference

12 December 2020

Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene

1 reference

12 December 2020

Molecular genetic basis of the histo-blood group ABO system.

1 reference

12 December 2020

A Contribution to the Study of Alkaptonuria

1 reference

12 December 2020

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor

1 reference

12 December 2020

Recessive inheritance of erythropoietic protoporphyria with liver failure

1 reference

12 December 2020

Clinical features of 52 neonates with hyperinsulinism.

1 reference

12 December 2020

Homozygous familial hypercholesterolaemia in identical twins

1 reference

12 December 2020

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

1 reference

12 December 2020

Homology Modeling Studies on Human Galactose-1-phosphate Uridylyltransferase and on Its Galactosemia-Related Mutant Q188R Provide an Explanation of Molecular Effects of the Mutation on Homo- and Heterodimers

1 reference

12 December 2020

KATP channels as molecular sensors of cellular metabolism

1 reference

12 December 2020

One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma.

1 reference

12 December 2020

Do ΔF508 heterozygotes have a selective advantage?

1 reference

12 December 2020

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

12 December 2020

Molecular analysis and prenatal diagnosis of human fumarase deficiency

1 reference

12 December 2020

Natural history of Fabry disease in females in the Fabry Outcome Survey.

1 reference

12 December 2020

SEX LIMITED INHERITANCE IN DROSOPHILA.

1 reference

12 December 2020

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

1 reference

12 December 2020

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

1 reference

12 December 2020

Biallelic inactivation of BRCA2 in Fanconi anemia

1 reference

12 December 2020

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease

1 reference

12 December 2020

Familial hyperinsulinism caused by an activating glucokinase mutation

1 reference

12 December 2020

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

1 reference

12 December 2020

Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells

1 reference

12 December 2020

Histidinaemic Mutant in the Mouse

1 reference

12 December 2020

Genetic aspects of erythropoietic protoporphyria

1 reference

12 December 2020

Molecular and functional characterisation of mild MCAD deficiency

1 reference

12 December 2020

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

1 reference

12 December 2020

Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy

1 reference

12 December 2020

Acute intermittent porphyria: studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias

1 reference

12 December 2020

Cloning and characterization of DNA complementary to human UDP-GalNAc: Fuc alpha 1----2Gal alpha 1----3GalNAc transferase (histo-blood group A transferase) mRNA.

1 reference

12 December 2020

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex

1 reference

12 December 2020

Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia

1 reference

12 December 2020

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene

1 reference

12 December 2020

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients

1 reference

12 December 2020

Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia

1 reference

12 December 2020

A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

1 reference

12 December 2020

Molecular genetics of human growth hormone, insulin-like growth factors and their pathways in common disease

1 reference

12 December 2020

A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements

1 reference

12 December 2020

An ABCC8 gene mutation and mosaic uniparental isodisomy resulting in atypical diffuse congenital hyperinsulinism

1 reference

12 December 2020

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

1 reference

12 December 2020

Sex determination and dosage compensation: lessons from flies and worms

1 reference

12 December 2020

Mitochondrial tumour suppressors: a genetic and biochemical update

1 reference

12 December 2020

Dopa-responsive dystonia is induced by a dominant-negative mechanism

1 reference

12 December 2020

Sex chromatin and gene action in the mammalian X-chromosome

1 reference

12 December 2020

GLUT1 deficiency syndrome--2007 update

1 reference

12 December 2020

A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels

1 reference

12 December 2020

The H19 gene: regulation and function of a non-coding RNA.

1 reference

12 December 2020

Inheritance of most X-linked traits is not dominant or recessive, just X-linked

1 reference

12 December 2020

Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism

1 reference

12 December 2020

Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria

1 reference

12 December 2020

Phenotypic variability in familial hypercholesterolaemia: an update

1 reference

12 December 2020

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that res

1 reference

12 December 2020

Two genetic hits (more or less) to cancer

1 reference

12 December 2020

ABO(H) blood group A and B glycosyltransferases recognize substrate via specific conformational changes

1 reference

12 December 2020

Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria

1 reference

12 December 2020

Molecular mechanisms of dominant expression in porphyria

1 reference

12 December 2020

Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).

1 reference

12 December 2020

The retinoblastoma tumour suppressor in development and cancer

1 reference

12 December 2020

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation

1 reference

12 December 2020

A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype

1 reference

12 December 2020

The imprinted H19 noncoding RNA is a primary microRNA precursor

1 reference

12 December 2020

Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors

1 reference

12 December 2020

Erythropoietic protoporphyria. A clinical and genetic study

1 reference

12 December 2020

Mild trimethylaminuria caused by common variants in FMO3 gene

1 reference

12 December 2020

Inherited deficiency of delta-aminolevulinic acid dehydratase

1 reference

12 December 2020

The Q188R mutation in human galactose-1-phosphate uridylyltransferase acts as a partial dominant negative

1 reference

12 December 2020

Biosynthesis of heme in mammals

1 reference

12 December 2020

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

1 reference

12 December 2020

Salmonella typhi uses CFTR to enter intestinal epithelial cells.

1 reference

12 December 2020

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations

1 reference

12 December 2020

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

1 reference

12 December 2020

Presence of a deletion in the 5' upstream region of the GALT gene in Duarte (D2) alleles

1 reference

12 December 2020

10.1007/S10545-008-1016-5

Identifiers

DOI

1 reference

19 August 2017

1 reference