Pages that link to "Q34664172"
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The following pages link to Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype (Q34664172):
Displaying 50 items.
- Legius syndrome (Q890470) (← links)
- Genetic disorders associated with macrocephaly (Q22337413) (← links)
- Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation (Q24294180) (← links)
- MAP'ing CNS development and cognition: an ERKsome process (Q24621710) (← links)
- SPRED 1 mutations in a neurofibromatosis clinic (Q24625404) (← links)
- The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation (Q24655603) (← links)
- RASopathies: unraveling mechanisms with animal models (Q26800379) (← links)
- A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor (Q27003534) (← links)
- The RASopathies (Q27022142) (← links)
- RAS diseases in children (Q28252058) (← links)
- Expansion of the RASopathies (Q28396082) (← links)
- Striatal microRNA controls cocaine intake through CREB signalling (Q28397558) (← links)
- LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies (Q30439033) (← links)
- Neurofibromatosis: chronological history and current issues (Q30449267) (← links)
- Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes (Q30454537) (← links)
- Hereditary Genodermatoses with Cancer Predisposition (Q30470596) (← links)
- Constitutive activation of B-Raf in the mouse germ line provides a model for human cardio-facio-cutaneous syndrome (Q30499131) (← links)
- Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes (Q33377270) (← links)
- Spred1 is required for synaptic plasticity and hippocampus-dependent learning (Q33396815) (← links)
- Spred1, a negative regulator of Ras-MAPK-ERK, is enriched in CNS germinal zones, dampens NSC proliferation, and maintains ventricular zone structure (Q33573588) (← links)
- Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum (Q33637874) (← links)
- Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development (Q33778196) (← links)
- Noonan syndrome: clinical aspects and molecular pathogenesis (Q33806161) (← links)
- Synergistic role of sprouty2 inactivation and c-Met up-regulation in mouse and human hepatocarcinogenesis (Q34062598) (← links)
- Sprouty4 is an endogenous negative modulator of TrkA signaling and neuronal differentiation induced by NGF (Q34182243) (← links)
- Ras in Cancer and Developmental Diseases (Q34202697) (← links)
- Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations (Q34299378) (← links)
- Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial (Q34375028) (← links)
- Disorders of dysregulated signal traffic through the RAS-MAPK pathway: phenotypic spectrum and molecular mechanisms (Q34440570) (← links)
- Legius syndrome in fourteen families. (Q34571194) (← links)
- MicroRNAs 206 and 21 cooperate to promote RAS-extracellular signal-regulated kinase signaling by suppressing the translation of RASA1 and SPRED1 (Q34592684) (← links)
- Non-invasive endothelial function assessment in patients with neurofibromatosis type 1: a cross-sectional study. (Q34623530) (← links)
- Noonan syndrome and clinically related disorders (Q34678373) (← links)
- Identification of SPRED2 (Sprouty-related Protein with EVH1 Domain 2) as a Negative Regulator of the Hypothalamic-Pituitary-Adrenal Axis (Q34685293) (← links)
- Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? (Q34809944) (← links)
- The pathoetiology of neurofibromatosis 1 (Q34838523) (← links)
- Observations on intelligence and behavior in 15 patients with Legius syndrome (Q34846435) (← links)
- Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing (Q34879821) (← links)
- Legius syndrome: case report and review of literature (Q35068740) (← links)
- Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations? (Q35477813) (← links)
- The SPRED1 Variants Repository for Legius Syndrome (Q35746828) (← links)
- Systems-wide analysis of BCR signalosomes and downstream phosphorylation and ubiquitylation. (Q35850333) (← links)
- Recent developments in brain tumor predisposing syndromes (Q35860402) (← links)
- Activated Kras Alters Epidermal Homeostasis of Mouse Skin, Resulting in Redundant Skin and Defective Hair Cycling (Q35910748) (← links)
- Genomic profiling screens small molecules of metastatic prostate carcinoma (Q38634324) (← links)
- SPRED1 Interferes with K-ras but Not H-ras Membrane Anchorage and Signaling (Q36098356) (← links)
- Overexpression and knockout of miR-126 both promote leukemogenesis (Q36193187) (← links)
- 126 novel mutations in Italian patients with neurofibromatosis type 1. (Q36411302) (← links)
- Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1. (Q36573914) (← links)
- Legius Syndrome: two novel mutations in the SPRED1 gene. (Q36671279) (← links)