Article
Mitchell-Riley syndrome iPSCs exhibit reduced pancreatic endoderm differentiation due to a mutation in RFX6.
Development (Cambridge, England) - 5 Nov 2020
Trott Jamie, Alpagu Yunus, Tan Ee Kim, Shboul Mohammad, Dawood Yousif, Elsy Michael, Wollmann Heike, Tano Vincent, Bonnard Carine, Eng Shermaine, Narayanan Gunaseelan, Junnarkar Seetanshu, Wearne Stephen, Strutt James, Kumar Aakash, Tomaz Lucian B, Goy Pierre-Alexis, Mzoughi Slim, Jennings Rachel, Hagoort Jaco, Eskin Ascia, Lee Hane, Nelson Stanley F, Al-Kazaleh Fawaz, El-Khateeb Mohammad, Fathallah Rajaa, Shah Harsha, Goeke Jonathan, Langley Sarah R, Guccione Ernesto, Hanley Neil, De Bakker Bernadette S, Reversade Bruno, Dunn N Ray
Abstract excerpt
Mitchell-Riley syndrome (MRS) is caused by recessive mutations in the regulatory factor X6 gene (RFX6) and is characterised by pancreatic hypoplasia and neonatal diabetes. To determine why individuals with MRS specifically lack pancreatic endocrine cells, we micro-CT imaged a 12-week-old foetus homozygous for the nonsense mutation RFX6 c.1129C>T, which revealed loss of the pancreas body and tail. From this...
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