Cargando…

Novel GATA6 Mutations in Patients with Pancreatic Agenesis and Congenital Heart Malformations

Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is an uncommon conditi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Chao, Christina S., McKnight, Kristen D., Cox, Kenneth L., Chang, Anne L., Kim, Seung K., Feldman, Brian J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4338276/ https://www.ncbi.nlm.nih.gov/pubmed/25706805 http://dx.doi.org/10.1371/journal.pone.0118449

Ejemplares similares

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation
por: Sanchez-Lechuga, Begona, et al.
Publicado: (2020)

A novel GATA6 mutation in a child with congenital heart malformation and neonatal diabetes
por: Eifes, Serge, et al.
Publicado: (2013)

Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report
por: Nakao, Atsushi, et al.
Publicado: (2013)

Congenital rectovaginal fistula with anorectal agenesis: A rare anorectal malformation
por: Tiwari, Charu, et al.
Publicado: (2017)

Colonic Agenesis with Anorectal Malformation – Rarest Variant of Congenital Short Colon
por: Rashi, Rashi, et al.
Publicado: (2022)

Identification of Functional Mutations in GATA4 in Patients with Congenital Heart Disease
por: Wang, Erli, et al.
Publicado: (2013)

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus
por: Yau, Daphne, et al.
Publicado: (2017)

Congenital Malformations of the Heart
por: Whittemore, R.
Publicado: (1948)

On the Congenital Malformations of the Heart
por: Paget, John
Publicado: (1831)

GATA6 Mutations Cause a Broad Phenotypic Spectrum of Diabetes From Pancreatic Agenesis to Adult-Onset Diabetes Without Exocrine Insufficiency
por: De Franco, Elisa, et al.
Publicado: (2013)

Congenital Heart Disease–Causing Gata4 Mutation Displays Functional Deficits In Vivo
por: Misra, Chaitali, et al.
Publicado: (2012)

Unilateral right pulmonary artery agenesis and congenital cystic adenomatoid malformation of the right lung with Ortner's syndrome
por: David, Jane Jackie, et al.
Publicado: (2016)

Congenital right hemidiaphragmatic agenesis
por: Mirza, Bilal, et al.
Publicado: (2012)

Case of Congenital Malformation of the Heart
por: Ness, R. Barclay
Publicado: (1899)

Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD)
por: Reamon-Buettner, Stella Marie, et al.
Publicado: (2007)

c.620C>T mutation in GATA4 is associated with congenital heart disease in South India
por: Mattapally, Saidulu, et al.
Publicado: (2015)

A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease
por: Zhang, Xiaoqing, et al.
Publicado: (2016)

Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis
por: Zhang, Yanwei, et al.
Publicado: (2017)

Complete dorsal pancreatic agenesis and unilateral renal agenesis
por: Moreira, Adriana, et al.
Publicado: (2017)

Left Pulmonary Agenesis Associated to Right Pulmonary Malformations
por: Muñoz-Cutillas, Agustín, et al.
Publicado: (2023)

Very rare congenital malformation: single seminal vesicle, associated with unilateral Kidney Agenesis: first case report
por: Dan, Mischianu, et al.
Publicado: (2008)

Functional analysis of the congenital heart disease-associated GATA4 H436Y mutation in vitro
por: Fang, Tao, et al.
Publicado: (2019)

Isolated congenital facial nerve agenesis
por: Gill, Amarit Kay, et al.
Publicado: (2023)

Dr. Paget on Congenital Malformations of the Heart
Publicado: (1832)

A Case of Congenital Malformation of the Heart
por: Middleton, Geo. S.
Publicado: (1882)

Hemiscrotal agenesis: a novel phenotype of a rare malformation
por: Mansy, Mohamed, et al.
Publicado: (2020)

Congenital agenesis of the gallbladder: a UK case report
por: Scobie, Jenna L., et al.
Publicado: (2016)

GATA4 transgenic mice as an in vivo model of congenital heart disease
por: HAN, HUA, et al.
Publicado: (2015)

Congenital Malformation
por: Hardman, L. G.
Publicado: (1878)

Novel GATA4 mutations in patients with congenital ventricular septal defects
por: Yang, Yi-Qing, et al.
Publicado: (2012)

Mutation spectrum of GATA4 associated with congenital atrial septal defects
por: Yang, Yi-Qing, et al.
Publicado: (2013)

Cancer gene mutations in congenital pulmonary airway malformation patients
por: Hsu, Jacob Shujui, et al.
Publicado: (2019)

Isolated Bilateral Congenital Iris Sphincter Agenesis
por: Rao, Aparna
Publicado: (2011)

Bilateral Congenital Anophthalmos and Agenesis of the Optic Pathways
por: Aktekin, Mustafa, et al.
Publicado: (2005)

Laparoscopic Management of Congenital Cervico-Vaginal Agenesis
por: Jain, Nutan, et al.
Publicado: (2011)

Congenital lumbar vertebrae agenesis in a lamb
por: Farajli Abbasi, Mohammad, et al.
Publicado: (2017)

Congenital Vomer Agenesis: Report of Two Cases
por: Bakhshaee, Mehdi, et al.
Publicado: (2017)

Congenital Agenesis of the Olfactory Bulbs: What to Suspect?
por: Costa, Isabel, et al.
Publicado: (2021)

Advanced Echocardiographic Imaging of the Congenitally Malformed Heart
por: Black, D, et al.
Publicado: (2013)

Deciphering the mutational signature of congenital limb malformations
por: Sun, Liying, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_nvhgvddem9ogj804qkcpb5l82t