Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
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The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discoveryRealizing the promise of cancer predisposition genes.Genetics and epigenetics of the skin meet deep sequence.The genetic basis of aortic aneurysmTGFBR1 mutations associated with Loeys-Dietz syndrome are inactivating.Whole exome sequencing of pediatric gastric adenocarcinoma reveals an atypical presentation of Li-Fraumeni syndromeStrategies to use immune modulators in therapeutic vaccines against cancerPharmacologic inhibition of ALK5 causes selective induction of terminal differentiation in mouse keratinocytes expressing oncogenic HRAS.Absence of cardiovascular manifestations in a haploinsufficient Tgfbr1 mouse model.Phase I study of GC1008 (fresolimumab): a human anti-transforming growth factor-beta (TGFβ) monoclonal antibody in patients with advanced malignant melanoma or renal cell carcinoma.The evolution of the search for novel genes in mammalian sex determination: from mice to menTGFβ receptor 1: an immune susceptibility gene in HPV-associated cancer.Mouse and human strategies identify PTPN14 as a modifier of angiogenesis and hereditary haemorrhagic telangiectasia.Targeting the TGFβ signalling pathway in disease.Multiple self-healing squamous epithelioma (MSSE): rare variants in an adjacent region of chromosome 9q22.3 to known TGFBR1 mutations suggest a digenic or multilocus etiology.Squamous Cell Cancers: A Unified Perspective on Biology and GeneticsExosome-mediated transfer from the tumor microenvironment increases TGFβ signaling in squamous cell carcinomaHereditary nonmelanoma skin cancerHereditary Influence in Thoracic Aortic Aneurysm and Dissection.Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesisA puzzling case: SCC or not?Genetic pathways in disorders of epidermal differentiation.Modeling cutaneous squamous carcinoma development in the mouseKeratoacanthoma: a distinct entity?Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery.DEOGEN2: prediction and interactive visualization of single amino acid variant deleteriousness in human proteins.Multiple keratoacanthoma centrifugum marginatum in a young boy, and review of the literature.Late-Onset Multiple Self-Healing Squamous Epithelioma Ferguson-Smith Recurrence Induced by Radiotherapy.Inactivation of TGFβ receptors in stem cells drives cutaneous squamous cell carcinomaTGF-β1 autocrine signalling and enamel matrix componentsThe paradoxical TGF-β vasculopathies.Family history of skin cancer is associated with increased risk of cutaneous squamous cell carcinoma.Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions.Loss of TGF-β signaling drives cSCC from skin stem cells - More evidence.Signaling by TGF-beta Receptor Complex in CancerLoss of Function of TGFBR1 in CancerTGFBR1 LBD Mutants in CancerTGFBR1 KD Mutants in CancerA Phase 2, Double-Blind, Placebo-Controlled, Randomized Study of Fresolimumab in Patients With Steroid-Resistant Primary Focal Segmental Glomerulosclerosis.Paradoxical roles of TGF-β signaling in suppressing and promoting squamous cell carcinoma.
P2860
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P2860
Multiple self-healing squamous epithelioma is caused by a disease-specific spectrum of mutations in TGFBR1.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Multiple self-healing squamous ...... ectrum of mutations in TGFBR1.
@en
type
label
Multiple self-healing squamous ...... ectrum of mutations in TGFBR1.
@en
prefLabel
Multiple self-healing squamous ...... ectrum of mutations in TGFBR1.
@en
P2093
P2860
P356
P1433
P1476
Multiple self-healing squamous ...... ectrum of mutations in TGFBR1.
@en
P2093
Arlene Stewart
Barry Merriman
Brian D O'Connor
Bruno Reversade
Chandra Verma
David R Goudie
Declan P Lunny
E Birgitte Lane
Gabriella Pichert
P2860
P2888
P304
P356
10.1038/NG.780
P407
P577
2011-02-27T00:00:00Z
P5875
P6179
1027823765