@article {781,
	title = {Organic Solute Transporter Alpha Deficiency: A Disorder With Cholestasis, Liver Fibrosis, and Congenital Diarrhea.},
	journal = {Hepatology},
	volume = {71},
	year = {2020},
	month = {2020 05},
	pages = {1879-1882},
	keywords = {Child, Preschool, Cholestasis, Diarrhea, Humans, Liver, Liver Cirrhosis, Male, Mutation, Pedigree, Receptors, G-Protein-Coupled},
	issn = {1527-3350},
	doi = {10.1002/hep.31087},
	author = {Gao, Emily and Cheema, Huma and Waheed, Nadia and Mushtaq, Iqra and Erden, Nihan and Nelson-Williams, Carol and Jain, Dhanpat and Soroka, Carol J and Boyer, James L and Khalil, Youssef and Clayton, Peter T and Mistry, Pramod K and Lifton, Richard P and Vilarinho, S{\'\i}lvia}
}
@article {435,
	title = {FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.},
	journal = {Pediatr Diabetes},
	volume = {19},
	year = {2018},
	month = {2018 05},
	pages = {388-392},
	abstract = {<p>Diabetes occurs in 1/90 000 to 1/160 000 births and when diagnosed under 6 months of age is very likely to have a primary genetic cause. FOXP3 encodes a transcription factor critical for T regulatory cell function and mutations are known to cause "immune dysregulation, polyendocrinopathy (including insulin-requiring diabetes), enteropathy, X-linked" (IPEX) syndrome. This condition is often fatal unless patients receive a bone-marrow transplant. Here we describe the phenotype of male neonates and infants who had insulin-requiring diabetes without other features of IPEX syndrome and were found to have mutations in FOXP3. Whole-exome or next generation sequencing of genes of interest was carried out in subjects with isolated neonatal diabetes without a known genetic cause. RT-PCR was carried out to investigate the effects on RNA splicing of a novel intronic splice-site variant. Four male subjects were found to have FOXP3 variants in the hemizygous state: p.Arg114Trp, p.Arg347His, p.Lys393Met, and c.1044+5G>A which was detected in 2 unrelated probands and in a brother diagnosed with diabetes at 2.1 years of age. Of these, p.Arg114Trp is likely a benign rare variant found in individuals of Ashkenazi Jewish ancestry and p.Arg347His has been previously described in patients with classic IPEX syndrome. The p.Lys393Met and c.1044+5G>A variants are novel to this study. RT-PCR studies of the c.1044+5G>A splice variant confirmed it affected RNA splicing by generating both a wild type and truncated transcript. We conclude that FOXP3 mutations can cause early-onset insulin-requiring diabetes with or without other features of IPEX syndrome.</p>},
	keywords = {Diabetes Mellitus, Diabetes Mellitus, Type 1, Diarrhea, Forkhead Transcription Factors, Genetic Diseases, X-Linked, Humans, Immune System Diseases, Infant, Infant, Newborn, Male, Registries},
	issn = {1399-5448},
	doi = {10.1111/pedi.12612},
	author = {Hwang, Jessica L and Park, Soo-Young and Ye, Honggang and Sanyoura, May and Pastore, Ashley N and Carmody, David and Del Gaudio, Daniela and Wilson, Janna F and Hanis, Craig L and Liu, Xiaoming and Atzmon, Gil and Glaser, Benjamin and Philipson, Louis H and Greeley, Siri Atma W}
}
