29896650 30507613 31301121 32634859 35235779 32245430 30552130 32935446 31084520 29514095 32273272 30547228 33692757 - Search Results

Year	Number of Results
2018	5
2019	5
2020	4
2021	2
2022	1

1

Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.

Letourneau LR, Greeley SAW. Letourneau LR, et al. Curr Diab Rep. 2018 Jun 13;18(7):46. doi: 10.1007/s11892-018-1016-2. Curr Diab Rep. 2018. PMID: 29896650 Free PMC article. Review.

2

Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.

Haliyur R, Tong X, Sanyoura M, Shrestha S, Lindner J, Saunders DC, Aramandla R, Poffenberger G, Redick SD, Bottino R, Prasad N, Levy SE, Blind RD, Harlan DM, Philipson LH, Stein RW, Brissova M, Powers AC. Haliyur R, et al. J Clin Invest. 2019 Jan 2;129(1):246-251. doi: 10.1172/JCI121994. Epub 2018 Dec 3. J Clin Invest. 2019. PMID: 30507613 Free PMC article.

3

GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrum.

Škorić-Milosavljević D, Tjong FVY, Barc J, Backx APCM, Clur SB, van Spaendonck-Zwarts K, Oostra RJ, Lahrouchi N, Beekman L, Bökenkamp R, Barge-Schaapveld DQCM, Mulder BJ, Lodder EM, Bezzina CR, Postma AV. Škorić-Milosavljević D, et al. Am J Med Genet A. 2019 Sep;179(9):1836-1845. doi: 10.1002/ajmg.a.61294. Epub 2019 Jul 12. Am J Med Genet A. 2019. PMID: 31301121 Free PMC article.

4

Histological validation of a type 1 diabetes clinical diagnostic model for classification of diabetes.

Carr ALJ, Perry DJ, Lynam AL, Chamala S, Flaxman CS, Sharp SA, Ferrat LA, Jones AG, Beery ML, Jacobsen LM, Wasserfall CH, Campbell-Thompson ML, Kusmartseva I, Posgai A, Schatz DA, Atkinson MA, Brusko TM, Richardson SJ, Shields BM, Oram RA. Carr ALJ, et al. Diabet Med. 2020 Dec;37(12):2160-2168. doi: 10.1111/dme.14361. Epub 2020 Jul 23. Diabet Med. 2020. PMID: 32634859 Free PMC article.

5

An HNF1α truncation associated with maturity-onset diabetes of the young impairs pancreatic progenitor differentiation by antagonizing HNF1β function.

Cujba AM, Alvarez-Fallas ME, Pedraza-Arevalo S, Laddach A, Shepherd MH, Hattersley AT, Watt FM, Sancho R. Cujba AM, et al. Cell Rep. 2022 Mar 1;38(9):110425. doi: 10.1016/j.celrep.2022.110425. Cell Rep. 2022. PMID: 35235779 Free PMC article.

6

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation.

Sanchez-Lechuga B, Saqlain M, Ng N, Colclough K, Woods C, Byrne M. Sanchez-Lechuga B, et al. BMC Med Genet. 2020 Apr 3;21(1):70. doi: 10.1186/s12881-020-01012-2. BMC Med Genet. 2020. PMID: 32245430 Free PMC article.

7

Relative Pancreas Volume Is Reduced in First-Degree Relatives of Patients With Type 1 Diabetes.

Campbell-Thompson ML, Filipp SL, Grajo JR, Nambam B, Beegle R, Middlebrooks EH, Gurka MJ, Atkinson MA, Schatz DA, Haller MJ. Campbell-Thompson ML, et al. Diabetes Care. 2019 Feb;42(2):281-287. doi: 10.2337/dc18-1512. Epub 2018 Dec 14. Diabetes Care. 2019. PMID: 30552130 Free PMC article.

8

Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature.

He B, Li X, Zhou Z. He B, et al. J Diabetes. 2021 Jan;13(1):19-32. doi: 10.1111/1753-0407.13114. Epub 2020 Oct 27. J Diabetes. 2021. PMID: 32935446 Review.

9

Islet amyloidosis in a child with type 1 diabetes.

Beery ML, Jacobsen LM, Atkinson MA, Butler AE, Campbell-Thompson M. Beery ML, et al. Islets. 2019;11(2):44-49. doi: 10.1080/19382014.2019.1599707. Epub 2019 May 14. Islets. 2019. PMID: 31084520 Free PMC article.

10

α Cell Function and Gene Expression Are Compromised in Type 1 Diabetes.

Brissova M, Haliyur R, Saunders D, Shrestha S, Dai C, Blodgett DM, Bottino R, Campbell-Thompson M, Aramandla R, Poffenberger G, Lindner J, Pan FC, von Herrath MG, Greiner DL, Shultz LD, Sanyoura M, Philipson LH, Atkinson M, Harlan DM, Levy SE, Prasad N, Stein R, Powers AC. Brissova M, et al. Cell Rep. 2018 Mar 6;22(10):2667-2676. doi: 10.1016/j.celrep.2018.02.032. Cell Rep. 2018. PMID: 29514095 Free PMC article.

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