PMC Articles for MedGen (Select 1842537) - PMC

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Select item 41255311.

Appreciating the broad clinical features of SMAD4 mutation carriers: a multi-center chart review

K.E. Wain, M.S. Ellingson, J. McDonald, A. Gammon, M. Roberts, P. Pichurin, I. Winship, D. Riegert-Johnson, J. N. Weitzel, N.M. Lindor

Genet Med. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Genet Med. 2014 Aug; 16(8): 588–593. Published online 2014 Feb 13. doi: 10.1038/gim.2014.5

PMCID:: PMC4125531

Abstract Article PDF–86K

Select item 38451222.

CDK10/cyclin M is a protein kinase that controls ETS2 degradation and is deficient in STAR syndrome

Vincent J. Guen, Carly Gamble, Marc Flajolet, Sheila Unger, Aurélie Thollet, Yoan Ferandin, Andrea Superti-Furga, Pascale A. Cohen, Laurent Meijer, Pierre Colas

Proc Natl Acad Sci U S A. 2013 Nov 26; 110(48): 19525–19530. Published online 2013 Nov 11. doi: 10.1073/pnas.1306814110

PMCID:: PMC3845122

Abstract Article PDF–825K

Select item 38719903.

Neonatal Diabetes, Gallbladder Agenesis, Duodenal Atresia, and Intestinal Malrotation Caused by a Novel Homozygous Mutation in RFX6

Jennifer P. Concepcion, Christina S. Reh, Mark Daniels, Xiaoming Liu, Veronica P Paz, Honggang Ye, Heather M. Highland, Craig L. Hanis, Siri Atma W Greeley

Pediatr Diabetes. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Pediatr Diabetes. 2014 Feb; 15(1): 67–72. Published online 2013 Aug 5. doi: 10.1111/pedi.12063

PMCID:: PMC3871990

Abstract Article PDF–526K

Select item 39009474.

Inherited Pain: SODIUM CHANNEL NAV1.7 A1632T MUTATION CAUSES ERYTHROMELALGIA DUE TO A SHIFT OF FAST INACTIVATION

Mirjam Eberhardt, Julika Nakajima, Alexandra B. Klinger, Cristian Neacsu, Kathrin Hühne, Andrias O. O'Reilly, Andreas M. Kist, Anne K. Lampe, Kerstin Fischer, Jane Gibson, Carla Nau, Andreas Winterpacht, Angelika Lampert

J Biol Chem. 2014 Jan 24; 289(4): 1971–1980. Published online 2013 Dec 5. doi: 10.1074/jbc.M113.502211

PMCID:: PMC3900947

Abstract Article PDF–1.9M

Select item 39396065.

Rifaximin Alters Intestinal Bacteria and Prevents Stress-Induced Gut Inflammation and Visceral Hyperalgesia in Rats

Dabo Xu, Jun Gao, Merritt Gillilland, III, Xiaoyin Wu, Il Song, John Y. Kao, Chung Owyang

Gastroenterology. Author manuscript; available in PMC 2015 Feb 1.

Published in final edited form as: Gastroenterology. 2014 Feb; 146(2): 484–96.e4. Published online 2013 Oct 22. doi: 10.1053/j.gastro.2013.10.026

PMCID:: PMC3939606

Abstract Article PDF–780K

Select item 39398756.

Minor class splicing shapes the zebrafish transcriptome during development

Sebastian Markmiller, Nicole Cloonan, Rea M. Lardelli, Karen Doggett, Maria-Cristina Keightley, Yeliz Boglev, Andrew J. Trotter, Annie Y. Ng, Simon J. Wilkins, Heather Verkade, Elke A. Ober, Holly A. Field, Sean M. Grimmond, Graham J. Lieschke, Didier Y. R. Stainier, Joan K. Heath

Proc Natl Acad Sci U S A. 2014 Feb 25; 111(8): 3062–3067. Published online 2014 Feb 10. doi: 10.1073/pnas.1305536111

PMCID:: PMC3939875

Abstract Article PDF–1.3M

Select item 39492567.

Irritable bowel syndrome: Emerging paradigm in pathophysiology

Yoo Jin Lee, Kyung Sik Park

World J Gastroenterol. 2014 Mar 14; 20(10): 2456–2469. Published online 2014 Mar 14. doi: 10.3748/wjg.v20.i10.2456

PMCID:: PMC3949256

Abstract Article PDF–1.2M

Select item 39679508.

Heterozygous De Novo and Inherited Mutations in the Smooth Muscle Actin (ACTG2) Gene Underlie Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Michael F. Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J. Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A. Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M. Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A. Gibbs, James R. Lupski, Arthur Beaudet

PLoS Genet. 2014 Mar; 10(3): e1004258. Published online 2014 Mar 27. doi: 10.1371/journal.pgen.1004258

PMCID:: PMC3967950

Abstract Article PDF–1.8M

Select item 40606509.

Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling

Heejung Moon, Jieun Song, Jeong-Oh Shin, Hankyu Lee, Hong-Kyung Kim, Jonathan T. Eggenschwiller, Jinwoong Bok, Hyuk Wan Ko

Proc Natl Acad Sci U S A. 2014 Jun 10; 111(23): 8541–8546. Published online 2014 May 22. doi: 10.1073/pnas.1323161111

PMCID:: PMC4060650

Abstract Article PDF–1.0M

Select item 412432410.

Screening for celiac disease in Down’s syndrome patients revealed cases of subtotal villous atrophy without typical for celiFac disease HLA-DQ and tissue transglutaminase antibodies

Oivi Uibo, Kaupo Teesalu, Kaja Metsküla, Tiia Reimand, Riste Saat, Tarvo Sillat, Koit Reimand, Tiina Talvik, Raivo Uibo

World J Gastroenterol. 2006 Mar 7; 12(9): 1430–1434. Published online 2006 Mar 7. doi: 10.3748/wjg.v12.i9.1430

PMCID:: PMC4124324

Abstract Article PDF–653K

Select item 378439611.

CCBE1 Mutation in Two Siblings, One Manifesting Lymphedema-Cholestasis Syndrome, and the Other, Fetal Hydrops

Sohela Shah, Laura K. Conlin, Luis Gomez, Øystein Aagenaes, Kristin Eiklid, A. S. Knisely, Michael T. Mennuti, Randolph P. Matthews, Nancy B. Spinner, Laura N. Bull

PLoS One. 2013; 8(9): e75770. Published online 2013 Sep 26. doi: 10.1371/journal.pone.0075770

PMCID:: PMC3784396

Abstract Article PDF–728K

Select item 413540812.

Structural and numerical changes of chromosome X in patients with esophageal atresia

Erwin Brosens, Elisabeth M de Jong, Tahsin Stefan Barakat, Bert H Eussen, Barbara D'haene, Elfride De Baere, Hannah Verdin, Pino J Poddighe, Robert-Jan Galjaard, Joost Gribnau, Alice S Brooks, Dick Tibboel, Annelies de Klein

Eur J Hum Genet. 2014 Sep; 22(9): 1077–1084. Published online 2014 Jan 8. doi: 10.1038/ejhg.2013.295

PMCID:: PMC4135408

Abstract Article PDF–1.3M

Select item 426813213.

Cohesin embraces new phenotypes

Ian D Krantz

Nat Genet. Author manuscript; available in PMC 2014 Dec 17.

Published in final edited form as: Nat Genet. 2014 Oct 29; 46(11): 1157–1158. doi: 10.1038/ng.3123

PMCID:: PMC4268132

Abstract Article PDF–189K

Select item 429494214.

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

Anne M Slavotinek, Sergio E Baranzini, Denny Schanze, Cassandre Labelle-Dumais, Kieran M Short, Ryan Chao, Mani Yahyavi, Emilia K Bijlsma, Catherine Chu, Stacey Musone, Ashleigh Wheatley, Pui-Yan Kwok, Sandra Marles, Jean-Pierre Fryns, A Murat Maga, Mohamed G Hassan, Douglas B Gould, Lohith Madireddy, Chumei Li, Timothy C Cox, Ian Smyth, Albert E Chudley, Martin Zenker

J Med Genet. Author manuscript; available in PMC 2015 Jan 15.

Published in final edited form as: J Med Genet. 2011 Jun; 48(6): 375–382. Published online 2011 Apr 20. doi: 10.1136/jmg.2011.089631

PMCID:: PMC4294942

Abstract Article PDF–1.3M

Select item 435539415.

Esophageal cancer in a family with hamartomatous tumors and germline PTEN frameshift and SMAD7 missense mutations

Scott K. Sherman, Jessica E. Maxwell, Qining Qian, Andrew M. Bellizzi, Terry A. Braun, Mark D. Iannettoni, Benjamin W. Darbro, James R. Howe

Cancer Genet. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Cancer Genet. 2015 Jan-Feb; 208(0): 41–46. Published online 2014 Nov 15. doi: 10.1016/j.cancergen.2014.11.002

PMCID:: PMC4355394

Abstract Article PDF–543K

Select item 437376116.

Glycosyl Phosphatidylinositol Anchor Biosynthesis Is Essential for Maintaining Epithelial Integrity during Caenorhabditis elegans Embryogenesis

Yemima Budirahardja, Thang Dinh Doan, Ronen Zaidel-Bar

PLoS Genet. 2015 Mar; 11(3): e1005082. Published online 2015 Mar 25. doi: 10.1371/journal.pgen.1005082

PMCID:: PMC4373761

Abstract Article PDF–3.6M

Select item 440629817.

MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development

Annita Achilleos, Nichole T. Huffman, Edwidge Marcinkiewicyz, Nabil G. Seidah, Qian Chen, Sarah L. Dallas, Paul A. Trainor, Jeff P. Gorski

Hum Mol Genet. 2015 May 15; 24(10): 2884–2898. Published online 2015 Feb 4. doi: 10.1093/hmg/ddv050

PMCID:: PMC4406298

Abstract Article PDF–1.5M

Select item 444381618.

Chromosome mis-segregation and cytokinesis failure in trisomic human cells

Joshua M Nicholson, Joana C Macedo, Aaron J Mattingly, Darawalee Wangsa, Jordi Camps, Vera Lima, Ana M Gomes, Sofia Dória, Thomas Ried, Elsa Logarinho, Daniela Cimini

eLife. 2015; 4: e05068. Published online 2015 May 5. doi: 10.7554/eLife.05068

PMCID:: PMC4443816

Abstract Article PDF–5.1M

Select item 445375919.

Amelia: A Multi-Center Descriptive Epidemiologic Study in a Large Dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and Overview of the Literature

EVA BERMEJO-SÁNCHEZ, LOURDES CUEVAS, EMMANUELLE AMAR, MARIAN K. BAKKER, SEBASTIANO BIANCA, FABRIZIO BIANCHI, MARK A. CANFIELD, EDUARDO E. CASTILLA, MAURIZIO CLEMENTI, GUIDO COCCHI, MARCIA L. FELDKAMP, DANIELLE LANDAU, EMANUELE LEONCINI, ZHU LI, R. BRIAN LOWRY, PIERPAOLO MASTROIACOVO, OSVALDO M. MUTCHINICK, ANKE RISSMANN, ANNUKKA RITVANEN, GIOACCHINO SCARANO, CSABA SIFFEL, ELENA SZABOVA, MARÍA-LUISA MARTÍNEZ-FRÍAS

Am J Med Genet C Semin Med Genet. Author manuscript; available in PMC 2015 Jun 3.

Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 Nov 15; 0(4): 288–304. Published online 2011 Oct 14. doi: 10.1002/ajmg.c.30319

PMCID:: PMC4453759

Abstract Article PDF–857K

Select item 354424220.

Expression of XPG protein in human normal and tumor tissues

Miguel Aracil, Lisa M Dauffenbach, Marta Martínez Diez, Rana Richeh, Victoria Moneo, Juan Fernando Martínez Leal, Luis Francisco García Fernández, Christopher A Kerfoot, Carlos M Galmarini

Int J Clin Exp Pathol. 2013; 6(2): 199–211. Published online 2013 Jan 15.

PMCID:: PMC3544242

Abstract Article PDF–2.5M

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PMC Articles for MedGen (Select 1842537) (323)
PMC
Acosta resupinata (31)
Taxonomy
Acosta resupinata AND 1[s_discriminator] (1)
dbGaP
Chain S, PROTEIN (GELSOLIN SEGMENT 1)
Chain S, PROTEIN (GELSOLIN SEGMENT 1)
gi|7245499|pdb|1C0G|S

Protein
Anterior Hypothalamic Nucleus
Anterior Hypothalamic Nucleus
Loose heterogeneous collection of cells in the anterior hypothalamus, continuous rostrally with the medial and lateral PREOPTIC AREAS and caudally with the TUBER CINEREUM....<br/>Year introduced: 2000(1983)

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