Výsledky vyhledávání - "Ranna El Khairi"

Dissertation/ Thesis

The use of human pluripotent stem cells to model HNF1B-associated diabetes

Autor: Ranna El Khairi, Ranna

Heterozygous mutations in the transcription factor, hepatocyte nuclear factor 1B (HNF1B), result in multisystem disease including diabetes due to beta-cell dysfunction and pancreatic hypoplasia. However, the mechanisms that underlie development of di

Externí odkaz: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.763677

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Akademický článek

GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation

Autor: Crystal Y. Chia, Pedro Madrigal, Simon L.I.J. Denil, Iker Martinez, Jose Garcia-Bernardo, Ranna El-Khairi, Mariya Chhatriwala, Maggie H. Shepherd, Andrew T. Hattersley, N. Ray Dunn, Ludovic Vallier

Publikováno v: Stem Cell Reports, Vol 12, Iss 1, Pp 57-70 (2019)

Summary: Heterozygous de novo mutations in GATA6 are the most frequent cause of pancreatic agenesis in humans. In mice, however, a similar phenotype requires the biallelic loss of Gata6 and its paralog Gata4. To elaborate the human-specific requireme

Externí odkaz: https://doaj.org/article/85ca6c716044458090cd3f3f8849497e

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Discharge outcome analysis of 1089 transgender young people referred to paediatric endocrine clinics in England 2008–2021

Autor: Gary Butler, Kirpal Adu-Gyamfi, Kerry Clarkson, Ranna El Khairi, Sara Kleczewski, Alice Roberts, Terry Y Segal, Karththeepan Yogamanoharan, Sabah Alvi, Nadia Amin, Paul Carruthers, Stacey Dover, Joanna Eastman, Talat Mushtaq, Una Masic, Polly Carmichael

Publikováno v: Archives of Disease in Childhood. 107:1018-1022

IntroductionThe destination of transgender and gender variant young people referred by the National Health Service (NHS) Gender Identity Development Service (GIDS) to, and discharged from the two English paediatric endocrine liaison clinics is not kn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f6913f352391eb26ca94dd6fae12bfc
https://doi.org/10.1136/archdischild-2022-324302

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Persistent hyperinsulinaemic hypoglycaemia in children with Rubinstein–Taybi syndrome

Autor: Jane A. Hurst, Pratik Shah, Emma Clement, Jonathan D Wasserman, Thomas Meissner, Clare Gilbert, Carsten Bergmann, Nada Quercia, Ranna El-Khairi, Sebastian Kummer, Alena Welters, Antonia Dastamani, Nadine Bachmann

Publikováno v: European Journal of Endocrinology. 181:121-128

Objective Genetic aetiology remains unknown in up to 50% of patients with persistent hyperinsulinaemic hypoglycaemia (HH). Several syndromes are associated with HH. We report Rubinstein–Taybi syndrome (RSTS) as one of the possible causes of persist

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d177b1d504aae23758b9db94d3a8275c
https://doi.org/10.1530/eje-19-0119

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Modeling HNF1B-associated monogenic diabetes using human iPSCs reveals an early stage impairment of the pancreatic developmental program

Autor: Ludovic Vallier, Pedro Madrigal, Daniele Muraro, Katarzyna Tilgner, Mariya Chhatriwala, Sapna Vyas, Crystal Y. Chia, Evelyn Olszanowski, Ranna El-Khairi, Santiago A. Rodríguez-Seguí

Publikováno v: Stem Cell Reports

Summary Heterozygous mutations in HNF1B in humans result in a multisystem disorder, including pancreatic hypoplasia and diabetes mellitus. Here we used a well-controlled human induced pluripotent stem cell pancreatic differentiation model to elucidat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dcf32caccae01f5fafe3235497665097
https://pubmed.ncbi.nlm.nih.gov/34450036

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A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

Autor: Edna F, Roche, Anne, McGowan, Olympia, Koulouri, Marc-Olivier, Turgeon, Adeline K, Nicholas, Emmeline, Heffernan, Ranna, El-Khairi, Noina, Abid, Greta, Lyons, David, Halsall, Marco, Bonomi, Luca, Persani, Mehul T, Dattani, Mark, Gurnell, Daniel J, Bernard, Nadia, Schoenmakers

Publikováno v: Clinical Endocrinology

Summary Objective Loss‐of‐function mutations in IGSF1 result in X‐linked central congenital hypothyroidism (CeCH), occurring in isolation or associated with additional pituitary hormone deficits. Intrafamilial penetrance is highly variable and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::6dc82ce8517229a6470c4883a864ab08
https://pubmed.ncbi.nlm.nih.gov/30086211

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