Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
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GJC2 missense mutations cause human lymphedemaAnalysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaLinkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairsVascular anomalies: from genetics toward models for therapeutic trialsA case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutationGenetics of lymphatic anomaliesAn Evolutionarily Conserved Role for Polydom/Svep1 During Lymphatic Vessel FormationLymphedema beyond breast cancer: a systematic review and meta-analysis of cancer-related secondary lymphedema.Long-range control of gene expression: emerging mechanisms and disruption in disease.Molecular mechanisms of pituitary organogenesis: In search of novel regulatory genes.Current views on the function of the lymphatic vasculature in health and diseaseGastrointestinal lymphatics in health and diseasePathogenesis of vascular anomalies.FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.Update on the molecular genetics of vascular anomalies.Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.Lymphaticosclerosis: a new way of thinking about lymphatic vessel obstructionThe new era of the lymphatic system: no longer secondary to the blood vascular systemmafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish.Emilin1 deficiency causes structural and functional defects of lymphatic vasculature.Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatmentForkhead transcription factors and cardiovascular biologyFrom germline towards somatic mutations in the pathophysiology of vascular anomalies.Integrin-alpha9 is required for fibronectin matrix assembly during lymphatic valve morphogenesis.Lymphatic development.FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function.Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit.Transcription factor pathways and congenital heart disease.Morphogenesis of the lymphatic vasculature: A focus on new progenitors and cellular mechanisms important for constructing lymphatic vessels.Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.The lymphatic vasculature: development and role in shaping immunity.Genetics of syndromic and non-syndromic hereditary nail disorders.Vascular heterogeneity and specialization in development and disease.A Novel Mutation in the FOXC2 Gene: A Heterozygous Insertion of Adenosine (c.867insA) in a Family with Lymphoedema of Lower Limbs without Distichiasis.Cdk5 and Foxc2--a new relationship in the lymphatic vasculature.Atypical presentation of congenital yellow nail syndrome in a 2-year-old female.Foxc2 influences alveolar epithelial cell differentiation during lung development.Cdk5 controls lymphatic vessel development and function by phosphorylation of Foxc2.
P2860
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P2860
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
2001年论文
@zh
2001年论文
@zh-cn
name
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
@en
type
label
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
@en
prefLabel
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
@en
P2093
P356
P1476
Truncating mutations in FOXC2 cause multiple lymphedema syndromes.
@en
P2093
Cherniske EM
Ferrell RE
Finegold DN
Lawrence EC
Levinson KL
P304
P356
10.1093/HMG/10.11.1185
P577
2001-05-01T00:00:00Z