Cargando…

EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome

The epithelial cell adhesion molecule gene (EPCAM, previously known as TACSTD1 or TROP1) encodes a membrane‐bound protein that is localized to the basolateral membrane of epithelial cells and is overexpressed in some tumors. Biallelic mutations in EPCAM cause congenital tufting enteropathy (CTE), wh...

Descripción completa

Detalles Bibliográficos
Autores principales:	Pathak, Sagar J., Mueller, James L., Okamoto, Kevin, Das, Barun, Hertecant, Jozef, Greenhalgh, Lynn, Cole, Trevor, Pinsk, Vered, Yerushalmi, Baruch, Gurkan, Odul E., Yourshaw, Michael, Hernandez, Erick, Oesterreicher, Sandy, Naik, Sandhia, Sanderson, Ian R., Axelsson, Irene, Agardh, Daniel, Boland, C. Richard, Martin, Martin G., Putnam, Christopher D., Sivagnanam, Mamata
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Mutation Updates
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6328345/ https://www.ncbi.nlm.nih.gov/pubmed/30461124 http://dx.doi.org/10.1002/humu.23688

Ejemplares similares

Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms
por: Das, Barun, et al.
Publicado: (2020)

Aberrant Epithelial Differentiation Contributes to Pathogenesis in a Murine Model of Congenital Tufting Enteropathy
por: Das, Barun, et al.
Publicado: (2021)

New Mutations of EpCAM Gene for Tufting Enteropathy in Saudi Arabia
por: AlMahamed, Shaden, et al.
Publicado: (2017)

New mutation in EPCAM for congenital tufting enteropathy: A case report
por: Zhou, Yan-Qiong, et al.
Publicado: (2020)

Three Novel EPCAM Variants Causing Tufting Enteropathy in Three Families
por: Ayyıldız Civan, Hasret, et al.
Publicado: (2021)

A novel compound-heterozygous EPCAM mutation in congenital tufting enteropathy
por: Zhao, Ruiqin, et al.
Publicado: (2022)

Congenital Tufting Enteropathy-Associated Mutant of Epithelial Cell Adhesion Molecule Activates the Unfolded Protein Response in a Murine Model of the Disease
por: Das, Barun, et al.
Publicado: (2020)

Long-Term Follow-Up of Tufting Enteropathy Caused by EPCAM Mutation p.Asp253Asn and Absent EPCAM Expression
por: Ozler, Oğuz, et al.
Publicado: (2020)

Lynch Syndrome-associated Mutations in MSH2 Alter DNA Repair and Checkpoint Response Functions In Vivo
por: Mastrocola, Adam S, et al.
Publicado: (2010)

Early-onset tufting enteropathy in HAI-2-deficient mice is independent of matriptase-mediated cleavage of EpCAM
por: Szabo, Roman, et al.
Publicado: (2023)

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism
por: Yuan, Zhuang-Zhuang, et al.
Publicado: (2020)

Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome
por: Deng, Sheng, et al.
Publicado: (2020)

The association between Interleukin-6 rs1800795/rs1800797 polymorphisms and risk of rotator cuff tear in a Chinese population
por: Li, Jin, et al.
Publicado: (2020)

Reply to comments on: “Obesity associated with a novel mitochondrial tRNA(Cys) 5802A>G mutation in a Chinese family”
por: Wang, Jinling, et al.
Publicado: (2020)

Role of matrix metalloproteases 1/3 gene polymorphisms in patients with rotator cuff tear
por: Miao, Kaisong, et al.
Publicado: (2019)

Mitochondrial tRNA mutations in Chinese children with tic disorders
por: Jiang, Peifang, et al.
Publicado: (2020)

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes
por: Button, Emily L., et al.
Publicado: (2022)

Genetic variants and haplotypes in fibulin-5 (FBLN5) are associated with pseudoexfoliation glaucoma but not with pseudoexfoliation syndrome
por: Kapuganti, Ramani Shyam, et al.
Publicado: (2023)

Intestinal epithelial dysplasia (tufting enteropathy)
por: Goulet, Olivier, et al.
Publicado: (2007)

mTrop1/Epcam Knockout Mice Develop Congenital Tufting Enteropathy through Dysregulation of Intestinal E-cadherin/β-catenin
por: Guerra, Emanuela, et al.
Publicado: (2012)

Correction: mTrop1/Epcam Knockout Mice Develop Congenital Tufting Enteropathy through Dysregulation of Intestinal E-cadherin/β-catenin
por: Guerra, Emanuela, et al.
Publicado: (2013)

Amelioration of Congenital Tufting Enteropathy in EpCAM (TROP1)-Deficient Mice via Heterotopic Expression of TROP2 in Intestinal Epithelial Cells
por: Nakato, Gaku, et al.
Publicado: (2020)

Transcriptional Read-Through Induction Treatment Trial in Intestinal Failure Induced by an EpCAM Nonsense Mutation
por: Sivagnanam, Mamata, et al.
Publicado: (2012)

Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France
por: Marduel, Marie, et al.
Publicado: (2010)

A Rare Novel Deletion of the Tyrosine Hydroxylase Gene in Parkinson Disease
por: Bademci, Güney, et al.
Publicado: (2010)

Evaluation of Germline BMP4 Mutation as a Cause of Colorectal Cancer
por: Lubbe, Steven J, et al.
Publicado: (2011)

Plectin Deficiency Leads to Both Muscular Dystrophy and Pyloric Atresia in Epidermolysis Bullosa Simplex
por: Natsuga, Ken, et al.
Publicado: (2010)

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females
por: Depienne, Christel, et al.
Publicado: (2011)

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome
por: Maselli, R A, et al.
Publicado: (2009)

A Novel Mutation in CRYBB1 Associated with Congenital Cataract-Microcornea Syndrome: The p.Ser129Arg Mutation Destabilizes the βB1/βA3-crystallin Heteromer But Not the βB1-crystallin Homomer
por: Wang, Kai Jie, et al.
Publicado: (2011)

Clinical and genetic spectrum of Birt–Hogg–Dubé syndrome patients in whom pneumothorax and/or multiple lung cysts are the presenting feature
por: Kunogi, Makiko, et al.
Publicado: (2010)

Genetic Etiology of Parkinson Disease Associated with Mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update
por: Nuytemans, Karen, et al.
Publicado: (2010)

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression
por: Thiele, Holger, et al.
Publicado: (2010)

Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits
por: Horn, Denise, et al.
Publicado: (2010)

A Novel CRYGD Mutation (p.Trp43Arg) Causing Autosomal Dominant Congenital Cataract in a Chinese Family
por: Wang, Binbin, et al.
Publicado: (2011)

Mutation Spectrum of EYS in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa
por: Barragán, Isabel, et al.
Publicado: (2010)

A Novel Germline CDKN1B Mutation Causing Multiple Endocrine Tumors: Clinical, Genetic and Functional Characterization
por: Molatore, Sara, et al.
Publicado: (2010)

Adenine DNA Glycosylase Activity of 14 Human MutY Homolog (MUTYH) Variant Proteins Found in Patients with Colorectal Polyposis and Cancer
por: Goto, Masanori, et al.
Publicado: (2010)

Evaluating Self-declared Ancestry of U.S. Americans with Autosomal, Y-chromosomal and Mitochondrial DNA
por: Lao, Oscar, et al.
Publicado: (2010)

Legius Syndrome in Fourteen Families
por: Denayer, Ellen, et al.
Publicado: (2011)

Cannot write session to /tmp/vufind_sessions/sess_lunv0i9fkunqef7r0afrs93qdb