PMC Articles for MedGen (Select 461967) - PMC

Select item 76535591.

MODY10 caused by c.309-314del CCAGCT insGCGC mutation of the insulin gene: a case report

Shu-Qin Lei, Jie-Ying Wang, Rong-Min Li, Jie Chang, Zhen Li, Li Ren, Yan-Mei Sang

Am J Transl Res. 2020; 12(10): 6599–6607. Published online 2020 Oct 15.

PMCID:: PMC7653559

Article PDF–553K

Select item 48902652.

Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes

Yisheng Yang, Lawrence Chan

Endocr Rev. 2016 Jun; 37(3): 190–222. Published online 2016 Mar 30. doi: 10.1210/er.2015-1116

PMCID:: PMC4890265

Article

Select item 94181903.

UDP-glucose, cereblon-dependent proinsulin degrader

Jaeyong Cho, Atsushi Miyagawa, Kazuki Yamaguchi, Wakana Abe, Yoji Tsugawa, Hatsuo Yamamura, Takeshi Imai

Sci Rep. 2022; 12: 14568. Published online 2022 Aug 26. doi: 10.1038/s41598-022-18902-5

PMCID:: PMC9418190

Article PDF–3.4M

Select item 71365084.

A homozygous mutation in the insulin gene (INS) causing autosomal recessive neonatal diabetes in Saudi families

Adnan Al Shaikh, Bader Shirah, Somaya Alzelaye

Ann Pediatr Endocrinol Metab. 2020 Mar; 25(1): 42–45. Published online 2020 Mar 31. doi: 10.6065/apem.2020.25.1.42

PMCID:: PMC7136508

Article PDF–267K

Select item 91108425.

Identification of Variants Responsible for Monogenic Forms of Diabetes in Brazil

Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Ana Carolina Proença da Fonseca, Juliana Rosa Ferreira de Oliveira Andrade, Ritiele Bastos de Souza, Camila de Almeida Pereira Dias Soares, Amanda Cambraia, Pedro Hernan Cabello, Melanie Rodacki, Lenita Zajdenverg, Verônica Marques Zembrzuski, Mário Campos Junior

Front Endocrinol (Lausanne) 2022; 13: 827325. Published online 2022 May 3. doi: 10.3389/fendo.2022.827325

PMCID:: PMC9110842

Article PDF–1.4M

Select item 88808496.

Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations

Esra Arslan Ateş, Özlem Üstay, Hamza Polat, Tuğçe Apaydın, Onur Elbasan, Özlem Yıldırım, Ahmet İlter Güney

Balkan Med J. 2021 Sep; 38(5): 272–277. Published online 2021 Sep 1. doi: 10.5152/balkanmedj.2021.20155

PMCID:: PMC8880849

Article PDF–583K

Select item 73796697.

Novel frameshift mutation in the insulin (INS) gene in a family with maturity onset diabetes of the young (MODY)

Xiaoyu Xiao, Lili Liu, Yang Xiao, Zhiguo Xie, Long Li, Houde Zhou, Weili Tang, Shiping Liu, Zhiguang Zhou

J Diabetes. 2019 Jan; 11(1): 83–86. Published online 2018 Oct 17. doi: 10.1111/1753-0407.12849

PMCID:: PMC7379669

Article PDF–290K

Select item 47566428.

Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

G. Alkorta-Aranburu, D. Carmody, Y.W. Cheng, V. Nelakuditi, L. Ma, Jazzmyne T. Dickens, S. Das, S.A.W. Greeley, D. del Gaudio

Mol Genet Metab. Author manuscript; available in PMC 2016 Feb 17.

Published in final edited form as: Mol Genet Metab. 2014 Dec; 113(4): 315–320. Published online 2014 Sep 28. doi: 10.1016/j.ymgme.2014.09.007

PMCID:: PMC4756642

Article PDF–289K

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