PMC Articles for MedGen (Select 539808) - PMC

Akihisa Fukuda, Yoshiya Kawaguchi, Kenichiro Furuyama, Sota Kodama, Masashi Horiguchi, Takeshi Kuhara, Michiya Kawaguchi, Mami Terao, Ryuichiro Doi, Christopher V.E. Wright, Mikio Hoshino, Tsutomu Chiba, Shinji Uemoto

Diabetes. 2008 Sep; 57(9): 2421–2431. doi: 10.2337/db07-1558

PMCID:: PMC2518493

Abstract Article PDF–2.4M

Select item 10498094.

Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

T Yorifuji, M Matsumura, T Okuno, K Shimizu, T Sonomura, J Muroi, C Kuno, Y Takahashi, T Okuno

J Med Genet. 1994 Apr; 31(4): 331–333. doi: 10.1136/jmg.31.4.331

PMCID:: PMC1049809

Summary Page Browse PDF–883K

Select item 92572525.

Mitchell–Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations

Caroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, Alix Besancon, Dulanjalee Kariyawasam, Cécile Godot, Cécile Lambe, Cécile Talbotec, Muriel Girard, Christophe Chardot, Laureline Berteloot, Taymme Hachem, Alexandre Lapillonne, Amélie Poidvin, Caroline Storey, Mathieu Neve, Cosmina Stan, Emmanuelle Dugelay, Anne-Laure Fauret-Amsellem, Yline Capri, Hélène Cavé, Marina Ybarra, Vikash Chandra, Raphaël Scharfmann, Elise Bismuth, Michel Polak, Jean Claude Carel, Bénédicte Pigneur, Jacques Beltrand

Front Endocrinol (Lausanne) 2022; 13: 802351. Published online 2022 Jun 22. doi: 10.3389/fendo.2022.802351

PMCID:: PMC9257252

Abstract Article PDF–4.8M

Select item 85569826.

Determining oncogenic patterns and cancer predisposition through the transcriptomic profile in Mitchell–Riley syndrome with heterotopic gastric mucosa and duodenal atresia: a case report

Valeria Calcaterra, Luigi Chiricosta, Emanuela Mazzon, Agnese Gugnandolo, Daniele Alberti, Luciano Maestri, Milena Meroni, Elettra Vestri, Elvira Verduci, Dario Dilillo, Gianvincenzo Zuccotti, Gloria Pelizzo

Orphanet J Rare Dis. 2021; 16: 455. Published online 2021 Oct 29. doi: 10.1186/s13023-021-02093-9

PMCID:: PMC8556982

Abstract Article PDF–1.1M

Select item 84525407.

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

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

Stem Cell Reports. 2021 Sep 14; 16(9): 2289–2304. Published online 2021 Aug 26. doi: 10.1016/j.stemcr.2021.07.018

PMCID:: PMC8452540

Abstract Article PDF–6.8M

Select item 78695828.

Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland

Rafał Motyka, Marcin Kołbuc, Wojciech Wierzchołowski, Bodo B. Beck, Iwona Ewa Towpik, Marcin Zaniew

Am J Case Rep. 2021; 22: e928994-1–e928994-7. Published online 2021 Feb 2. doi: 10.12659/AJCR.928994

PMCID:: PMC7869582

Abstract Article PDF–1.0M

Select item 70575319.

Personalized medicine in chronic kidney disease by detection of monogenic mutations

Dervla M Connaughton, Friedhelm Hildebrandt

Nephrol Dial Transplant. 2020 Mar; 35(3): 390–397. Published online 2019 Feb 26. doi: 10.1093/ndt/gfz028

PMCID:: PMC7057531

Abstract Article PDF–496K

Select item 582587010.

The ATPase activity of Asna1/TRC40 is required for pancreatic progenitor cell survival

Stefan Norlin, Vishal Parekh, Helena Edlund

Development. 2018 Jan 1; 145(1): dev154468. doi: 10.1242/dev.154468

PMCID:: PMC5825870

Abstract Article

Select item 579377811.

GRP94 Is an Essential Regulator of Pancreatic β-Cell Development, Mass, and Function in Male Mice

Do-sung Kim, Lili Song, Jingjing Wang, Hongju Wu, Guoqiang Gu, Yukiko Sugi, Zihai Li, Hongjun Wang

Endocrinology. 2018 Feb; 159(2): 1062–1073. Published online 2017 Dec 20. doi: 10.1210/en.2017-00685

PMCID:: PMC5793778

Abstract Article

Select item 520989312.

Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus

Daphne Yau, Elisa De Franco, Sarah E. Flanagan, Sian Ellard, Miriam Blumenkrantz, John J. Mitchell

Diagn Pathol. 2017; 12: 1. Published online 2017 Jan 3. doi: 10.1186/s13000-016-0592-1

PMCID:: PMC5209893

Abstract Article PDF–1.0M

Select item 509648513.

A Newly-Discovered Mutation in the RFX6 Gene of the Rare Mitchell-Riley Syndrome

Nusrat Khan, Waleed Dandan, Noura Al Hassani, Suha Hadi

J Clin Res Pediatr Endocrinol. 2016 Jun; 8(2): 246–249. Published online 2016 Jun 6. doi: 10.4274/jcrpe.2387

PMCID:: PMC5096485

Abstract Article PDF–88K

Select item 506337114.

Loss of Pancreas upon Activated Wnt Signaling Is Concomitant with Emergence of Gastrointestinal Identity

Jose Luis Muñoz-Bravo, Alvaro Flores-Martínez, Griselda Herrero-Martin, Sapna Puri, Makoto Mark Taketo, Anabel Rojas, Matthias Hebrok, David A. Cano

PLoS One. 2016; 11(10): e0164714. Published online 2016 Oct 13. doi: 10.1371/journal.pone.0164714

PMCID:: PMC5063371

Abstract Article PDF–5.0M

Select item 483912915.

Neonatal diabetes and protein losing enteropathy: a case report

Tamara McMillan, Rose Girgis, Elizabeth A. C. Sellers

BMC Med Genet. 2016; 17: 32. Published online 2016 Apr 21. doi: 10.1186/s12881-016-0296-0

PMCID:: PMC4839129

Abstract Article PDF–375K

Select item 434293616.

Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review

Radana Kotalova, Petra Dusatkova, Ondrej Cinek, Lenka Dusatkova, Tomas Dedic, Tomas Seeman, Jan Lebl, Stepanka Pruhova

World J Gastroenterol. 2015 Feb 28; 21(8): 2550–2557. Published online 2015 Feb 28. doi: 10.3748/wjg.v21.i8.2550

PMCID:: PMC4342936

Abstract Article PDF–886K

Select item 368931917.

Generation of Mice with a Conditional Null Allele for Wntless

April C. Carpenter, Sujata Rao, James M. Wells, Kenneth Campbell, Richard A. Lang

Genesis. Author manuscript; available in PMC 2013 Jun 21.

Published in final edited form as: Genesis. 2010 Sep; 48(9): 554–558. doi: 10.1002/dvg.20651

PMCID:: PMC3689319

Abstract Article PDF–1.8M

Select item 365455618.

Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency

E De Franco, C Shaw-Smith, S E Flanagan, E L Edghill, J Wolf, V Otte, F Ebinger, P Varthakavi, T Vasanthi, S Edvardsson, A T Hattersley, S Ellard

Diabet Med. 2013 May; 30(5): e197–e200. Published online 2013 Feb 28. doi: 10.1111/dme.12122

PMCID:: PMC3654556

Abstract Article PDF–211K

Select item 291107219.

Mesenchymal Bone Morphogenetic Protein Signaling Is Required for Normal Pancreas Development

Jonas Ahnfelt-Rønne, Philippe Ravassard, Corinne Pardanaud-Glavieux, Raphaél Scharfmann, Palle Serup

Diabetes. 2010 Aug; 59(8): 1948–1956. Published online 2010 Jun 3. doi: 10.2337/db09-1010

PMCID:: PMC2911072

Abstract Article PDF–1.0M

Select item 260707720.

Dynamic regulation of Pdx1 enhancers by Foxa1 and Foxa2 is essential for pancreas development

Nan Gao, John LeLay, Marko Z. Vatamaniuk, Sebastian Rieck, Joshua R. Friedman, Klaus H. Kaestner

Genes Dev. 2008 Dec 15; 22(24): 3435–3448. doi: 10.1101/gad.1752608

PMCID:: PMC2607077

Abstract Article PDF–1.6M

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