PMC Articles for MedGen (Select 222980) - PMC

Amytice Mirchi, Simon-Pierre Guay, Luan T Tran, Nicole I Wolf, Adeline Vanderver, Bernard Brais, Michel Sylvain, Daniela Pohl, Elsa Rossignol, Michael Saito, Sebastien Moutton, Luis González-Gutiérrez-Solana, Isabelle Thiffault, Michael C Kruer, Dolores Gonzales Moron, Marcelo Kauffman, Cyril Goizet, László Sztriha, Emma Glamuzina, Serge B Melançon, Sakkubai Naidu, Jean-Marc Retrouvey, Suzanne Lacombe, Beatriz Bernardino-Cuesta, Isabelle De Bie, Geneviève Bernard

J Med Genet. 2023 Oct; 60(10): 1026–1034. Published online 2023 May 16. doi: 10.1136/jmg-2023-109223

PMCID:: PMC10579516

Abstract Article PDF–669K

Select item 103217224.

Morphological and molecular characterization of Contracaecum australe (Nematoda: Anisakidae) parasitizing Phalacrocorax brasilianus (Aves: Phalacrocoracidae) on the north coast of Brazil

Ricardo Luis Sousa Santana, Elaine Lopes de Carvalho, José Ledamir Sindeaux, Neto, Michele Velasco Oliveira da Silva, Raul Henrique da Silva Pinheiro, Evonnildo Costa Gonçalves, Elane Guerreiro Giese

Rev Bras Parasitol Vet. 2023; 32(2): e003723. Published online 2023 Jun 30. doi: 10.1590/S1984-29612023039

PMCID:: PMC10321722

Abstract Article PDF–2.8M

Select item 93018405.

Inhibition of p38 mitogen-activated protein kinases may attenuate scar proliferation after cleft lip surgery in rabbits via Smads signaling pathway

Qian Ding, Jin Yue, Ling-fa Xue, Yao-xiang Xu, Wen-lin Xiao

Eur J Med Res. 2022; 27: 126. Published online 2022 Jul 20. doi: 10.1186/s40001-022-00757-1

PMCID:: PMC9301840

Abstract Article PDF–2.0M

Select item 92350236.

Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa)

Gerrye Mubungu, Prince Makay, Bouchra Boujemla, Stephane Yanda, Jennifer E. Posey, James R. Lupski, Vincent Bours, Prosper Lukusa, Koenraad Devriendt, Aimé Lumaka

Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 27.

Published in final edited form as: Am J Med Genet A. 2021 Mar; 185(3): 990–994. Published online 2020 Dec 29. doi: 10.1002/ajmg.a.62049

PMCID:: PMC9235023

Abstract Article PDF–606K

Select item 91404147.

A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome

Yonghua Chen, Qingqing Chen, Ke Yuan, Jianfang Zhu, Yanlan Fang, Qingfeng Yan, Chunlin Wang

Genes (Basel) 2022 May; 13(5): 740. Published online 2022 Apr 22. doi: 10.3390/genes13050740

PMCID:: PMC9140414

Abstract Article PDF–2.5M

Select item 85357458.

Compound Heterozygote of Point Mutation and Chromosomal Microdeletion Involving OTUD6B Coinciding with ZMIZ1 Variant in Syndromic Intellectual Disability

Tim Phetthong, Arthaporn Khongkrapan, Natini Jinawath, Go-Hun Seo, Duangrurdee Wattanasirichaigoon

Genes (Basel) 2021 Oct; 12(10): 1583. Published online 2021 Oct 7. doi: 10.3390/genes12101583

PMCID:: PMC8535745

Abstract Article PDF–4.4M

Select item 74347449.

Extension of the phenotypic spectrum of GLE1‐related disorders to a mild congenital form resembling congenital myopathy

Mathieu Cerino, Chloé Di Meglio, Francesca Albertini, Frédérique Audic, Florence Riccardi, Christophe Boulay, Nicole Philip, Marc Bartoli, Nicolas Lévy, Martin Krahn, Brigitte Chabrol

Mol Genet Genomic Med. 2020 Aug; 8(8): e1277. Published online 2020 Jun 14. doi: 10.1002/mgg3.1277

PMCID:: PMC7434744

Abstract Article PDF–500K

Select item 698476510.

Activation of ferritinophagy is required for the RNA-binding protein ELAVL1/HuR to regulate ferroptosis in hepatic stellate cells

Zili Zhang, Zhen Yao, Ling Wang, Hai Ding, Jiangjuan Shao, Anping Chen, Feng Zhang, Shizhong Zheng

Autophagy. 2018; 14(12): 2083–2103. Published online 2018 Aug 21. doi: 10.1080/15548627.2018.1503146

PMCID:: PMC6984765

Abstract Article PDF–3.7M

Select item 640752711.

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Benjamin Cogné, Sophie Ehresmann, Eliane Beauregard-Lacroix, Justine Rousseau, Thomas Besnard, Thomas Garcia, Slavé Petrovski, Shiri Avni, Kirsty McWalter, Patrick R. Blackburn, Stephan J. Sanders, Kévin Uguen, Jacqueline Harris, Julie S. Cohen, Moira Blyth, Anna Lehman, Jonathan Berg, Mindy H. Li, Usha Kini, Shelagh Joss, Charlotte von der Lippe, Christopher T. Gordon, Jennifer B. Humberson, Laurie Robak, Daryl A. Scott, Vernon R. Sutton, Cara M. Skraban, Jennifer J. Johnston, Annapurna Poduri, Magnus Nordenskjöld, Vandana Shashi, Erica H. Gerkes, Ernie M.H.F. Bongers, Christian Gilissen, Yuri A. Zarate, Malin Kvarnung, Kevin P. Lally, Peggy A. Kulch, Brina Daniels, Andres Hernandez-Garcia, Nicholas Stong, Julie McGaughran, Kyle Retterer, Kristian Tveten, Jennifer Sullivan, Madeleine R. Geisheker, Asbjorg Stray-Pedersen, Jennifer M. Tarpinian, Eric W. Klee, Julie C. Sapp, Jacob Zyskind, Øystein L. Holla, Emma Bedoukian, Francesca Filippini, Anne Guimier, Arnaud Picard, Øyvind L. Busk, Jaya Punetha, Rolph Pfundt, Anna Lindstrand, Ann Nordgren, Fayth Kalb, Megha Desai, Ashley Harmon Ebanks, Shalini N. Jhangiani, Tammie Dewan, Zeynep H. Coban Akdemir, Aida Telegrafi, Elaine H. Zackai, Amber Begtrup, Xiaofei Song, Annick Toutain, Ingrid M. Wentzensen, Sylvie Odent, Dominique Bonneau, Xénia Latypova, Wallid Deb, CAUSES Study, Sylvia Redon, Frédéric Bilan, Marine Legendre, Caitlin Troyer, Kerri Whitlock, Oana Caluseriu, Marine I. Murphree, Pavel N. Pichurin, Katherine Agre, Ralitza Gavrilova, Tuula Rinne, Meredith Park, Catherine Shain, Erin L. Heinzen, Rui Xiao, Jeanne Amiel, Stanislas Lyonnet, Bertrand Isidor, Leslie G. Biesecker, Dan Lowenstein, Jennifer E. Posey, Anne-Sophie Denommé-Pichon, Deciphering Developmental Disorders study, Claude Férec, Xiang-Jiao Yang, Jill A. Rosenfeld, Brigitte Gilbert-Dussardier, Séverine Audebert-Bellanger, Richard Redon, Holly A.F. Stessman, Christoffer Nellaker, Yaping Yang, James R. Lupski, David B. Goldstein, Evan E. Eichler, Francois Bolduc, Stéphane Bézieau, Sébastien Küry, Philippe M. Campeau

Am J Hum Genet. 2019 Mar 7; 104(3): 530–541. Published online 2019 Feb 28. doi: 10.1016/j.ajhg.2019.01.010

PMCID:: PMC6407527

Abstract Article PDF–2.4M

Select item 602028512.

Identification of sonic hedgehog-regulated genes and biological processes in the cranial neural crest mesenchyme by comparative transcriptomics

Joshua L. Everson, Dustin M. Fink, Hannah M. Chung, Miranda R. Sun, Robert J. Lipinski

BMC Genomics. 2018; 19: 497. Published online 2018 Jun 27. doi: 10.1186/s12864-018-4885-5

PMCID:: PMC6020285

Abstract Article PDF–5.2M

Select item 588364113.

A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report

Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati, Madhulika Kabra

BMC Pediatr. 2018; 18: 126. Published online 2018 Apr 4. doi: 10.1186/s12887-018-1108-9

PMCID:: PMC5883641

Abstract Article PDF–1.4M

Select item 562788414.

Analysis of dermal fibroblasts isolated from neonatal and child cleft lip and adult skin: Developmental implications on reconstructive surgery

Veronika Živicová, Lukáš Lacina, Rosana Mateu, Karel Smetana, Jr, Radana Kavková, Eliška Drobná Krejčí, Miloš Grim, Alena Kvasilová, Jiří Borský, Hynek Strnad, Miluše Hradilová, Jana Šáchová, Michal Kolář, Barbora Dvořánková

Int J Mol Med. 2017 Nov; 40(5): 1323–1334. Published online 2017 Sep 7. doi: 10.3892/ijmm.2017.3128

PMCID:: PMC5627884

Abstract Article PDF–1.7M

Select item 557665115.

Meloidogyne aberrans sp. nov. (Nematoda: Meloidogynidae), a new root-knot nematode parasitizing kiwifruit in China

Ye Tao, Chunling Xu, Chunfen Yuan, Honghong Wang, Borong Lin, Kan Zhuo, Jinling Liao

PLoS One. 2017; 12(8): e0182627. Published online 2017 Aug 30. doi: 10.1371/journal.pone.0182627

PMCID:: PMC5576651

Abstract Article PDF–34M

Select item 501309016.

A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

Charlotte L Alston, Caoimhe Howard, Monika Oláhová, Steven A Hardy, Langping He, Philip G Murray, Siobhan O'Sullivan, Gary Doherty, Julian P H Shield, Iain P Hargreaves, Ardeshir A Monavari, Ina Knerr, Peter McCarthy, Andrew A M Morris, David R Thorburn, Holger Prokisch, Peter E Clayton, Robert McFarland, Joanne Hughes, Ellen Crushell, Robert W Taylor

J Med Genet. 2016 Sep; 53(9): 634–641. Published online 2016 Apr 18. doi: 10.1136/jmedgenet-2015-103576

PMCID:: PMC5013090

Abstract Article PDF–3.3M

Select item 496238017.

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report

Felipe Ruiz-Botero, Harry Pachajoa

J Med Case Rep. 2016; 10: 204. Published online 2016 Jul 27. doi: 10.1186/s13256-016-0988-2

PMCID:: PMC4962380

Abstract Article PDF–1.9M

Select item 483473318.

A new species of the genus Amolops (Amphibia: Ranidae) from southeastern Tibet, China

Ke JIANG, Kai WANG, Fang YAN, Jiang XIE, Da-Hu ZOU, Wu-Lin LIU, Jian-Ping JIANG, Cheng LI, Jing CHE

Dongwuxue Yanjiu. 2016 Jan 18; 37(1): 31–40. Published online 2016 Jan 18. doi: 10.13918/j.issn.2095-8137.2016.1.31

PMCID:: PMC4834733

Abstract Article PDF–3.9M

Select item 452606919.

Inhibition of liver fibrosis using vitamin A-coupled liposomes to deliver matrix metalloproteinase-2 siRNA in vitro

YIPING LI, FENG LIU, FENGAN DING, PINGSHENG CHEN, MENG TANG

Mol Med Rep. 2015 Sep; 12(3): 3453–3461. Published online 2015 May 25. doi: 10.3892/mmr.2015.3842

PMCID:: PMC4526069

Abstract Article PDF–2.0M

Select item 333022120.

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay

Cyril Amouroux, Marie Vincent, Patricia Blanchet, Jacques Puechberty, Anouck Schneider, Anne Marie Chaze, Manon Girard, Magali Tournaire, Christian Jorgensen, Denis Morin, Pierre Sarda, Geneviève Lefort, David Geneviève

Eur J Hum Genet. 2012 May; 20(5): 580–583. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.243

PMCID:: PMC3330221

Abstract Article PDF–227K

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