Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 9

Results: 25

The p.Cys169Tyr variant of connexin 26 is not a polymorphism.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2641, doi. 10.1093/hmg/ddv026

By:

Zonta, Francesco;
Girotto, Giorgia;
Buratto, Damiano;
Crispino, Giulia;
Morgan, Anna;
Abdulhadi, Khalid;
Alkowari, Moza;
Badii, Ramin;
Gasparini, Paolo;
Mammano, Fabio

Publication type:

Article

Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2411, doi. 10.1093/hmg/ddv002

By:

Ling Yi;
Kaler, Stephen G.

Publication type:

Article

Crystal structure of human persulfide dioxygenase: structural basis of ethylmalonic encephalopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2458, doi. 10.1093/hmg/ddv007

By:

Pettinati, Ilaria;
Brem, Jürgen;
McDonough, Michael A.;
Schofield, Christopher J.

Publication type:

Article

The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2578, doi. 10.1093/hmg/ddv021

By:

Magnani, Dario;
Morlé, Laurette;
Hasenpusch-Theil, Kerstin;
Paschaki, Marie;
Jacoby, Monique;
Schurmans, Stéphane;
Durand, Bénédicte;
Theil, Thomas

Publication type:

Article

Common polymorphisms in WNT10A affect tooth morphology as well as hair shape.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2673, doi. 10.1093/hmg/ddv014

By:

Ryosuke Kimura;
Chiaki Watanabe;
Akira Kawaguchi;
Yong-Il Kim;
Soo-Byung Park;
Koutaro Maki;
Hajime Ishida;
Tetsutaro Yamaguchi

Publication type:

Article

Allele-specific transcriptional regulation of IRF4 in melanocytes is mediated by chromatin looping of the intronic rs12203592 enhancer to the IRF4 promoter.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2649, doi. 10.1093/hmg/ddv029

By:

Visser, Mijke;
Palstra, Robert-Jan;
Kayser, Manfred

Publication type:

Article

Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2627, doi. 10.1093/hmg/ddv025

By:

Kevany, Brian M.;
Ning Zhang;
Jastrzebska, Beata;
Palczewski, Krzysztof

Publication type:

Article

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2689, doi. 10.1093/hmg/ddv027

By:

Springelkamp, Henriët;
Iglesias, Adriana I.;
Cuellar-Partida, Gabriel;
Amin, Najaf;
Burdon, Kathryn P.;
van Leeuwen, Elisabeth M.;
Gharahkhani, Puya;
Mishra, Aniket;
van der Lee, Sven J.;
Hewitt, Alex W.;
Rivadeneira, Fernando;
Viswanathan, Ananth C.;
Wolfs, Roger C. W.;
Martin, Nicholas G.;
Ramdas, Wishal D.;
van Koolwijk, Leonieke M.;
Pennell, Craig E.;
Vingerling, Johannes R.;
Mountain, Jenny E.;
Uitterlinden, André G.

Publication type:

Article

An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2492, doi. 10.1093/hmg/ddv010

By:

Van Overbeke, Wouter;
Wongsantichon, Jantana;
Everaert, Inge;
Verhelle, Adriaan;
Zwaenepoel, Olivier;
Loonchanta, Anantasak;
Burtnick, Leslie D.;
De Ganck, Ariane;
Hochepied, Tino;
Haigh, Jody;
Cuvelier, Claude;
Derave, Wim;
Robinson, Robert C.;
Gettemans, Jan

Publication type:

Article

Nucleolar stress and impaired stress granule formation contribute to C9orf72 RAN translation-induced cytotoxicity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2426, doi. 10.1093/hmg/ddv005

By:

Zhouteng Tao;
Hongfeng Wang;
Qin Xia;
Ke Li;
Kai Li;
Xiaogang Jiang;
Guoqiang Xu;
Guanghui Wang;
Zheng Ying

Publication type:

Article

FGFR1 signaling in hypertrophic chondrocytes is attenuated by the Ras-GAP neurofibromin during endochondral bone formation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2552, doi. 10.1093/hmg/ddv019

By:

Karolak, Matthew R.;
Xiangli Yang;
Elefteriou, Florent

Publication type:

Article

Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2470, doi. 10.1093/hmg/ddv008

By:

Spinazzola, Janelle M.;
Smith, Tara C.;
Min Liu;
Luna, Elizabeth J.;
Barton, Elisabeth R.

Publication type:

Article

miRNA-558 promotes tumorigenesis and aggressiveness of neuroblastoma cells through activating the transcription of heparanase.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2539, doi. 10.1093/hmg/ddv018

By:

Hongxia Qu;
Liduan Zheng;
Jiarui Pu;
Hong Mei;
Xuan Xiang;
Xiang Zhao;
Dan Li;
Shiwang Li;
Ling Mao;
Kai Huang;
Qiangsong Tong

Publication type:

Article

Early white matter abnormalities, progressive brain pathology and motor deficits in a novel knock-in mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2508, doi. 10.1093/hmg/ddv016

By:

Jing Jin;
Qi Peng;
Zhipeng Hou;
Mali Jiang;
Xin Wang;
Langseth, Abraham J.;
Tao, Michael;
Barker, Peter B.;
Susumu Mori;
Dwight E. Bergles;
Ross, Christopher A.;
Detloff, Peter J.;
Jiangyang Zhang;
Wenzhen Duan

Publication type:

Article

Genetic variants associated with motion sickness point to roles for inner ear development, neurological processes and glucose homeostasis.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2700, doi. 10.1093/hmg/ddv028

By:

Hromatka, Bethann S.;
Tung, Joyce Y.;
Kiefer, Amy K.;
Chuong B. Do;
Hinds, David A.;
Eriksson, Nicholas

Publication type:

Article

A missense mutation in DCDC2 causeshuman recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2482, doi. 10.1093/hmg/ddv009

By:

Grati, M'hamed;
Imen Chakchouk;
Qi Ma;
Bensaid, Mariem;
Desmidt, Alexandra;
Turki, Nouha;
Yan, Denise;
Baanannou, Aissette;
Mittal, Rahul;
Driss, Nabil;
Blanton, Susan;
Farooq, Amjad;
Zhongmin Lu;
Xue Zhong Liu;
Masmoudi, Saber

Publication type:

Article

ALS-linked mutations in ubiquilin-2 or hnRNPA1 reduce interaction between ubiquilin-2 and hnRNPA1.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2565, doi. 10.1093/hmg/ddv020

By:

Gilpin, Kathleen M.;
Chang, Lydia;
Monteiro, Mervyn J.

Publication type:

Article

The mitochondrial protein BNIP3L is the substrate of PARK2 and mediates mitophagy in PINK1/PARK2 pathway.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2528, doi. 10.1093/hmg/ddv017

By:

Feng Gao;
Dong Chen;
Jianmin Si;
Qingsong Hu;
Zhenghong Qin;
Ming Fang;
Guanghui Wang

Publication type:

Article

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2594, doi. 10.1093/hmg/ddv022

By:

Elsayed, Solaf M.;
Phillips, Jennifer B.;
Heller, Raoul;
Thoenes, Michaela;
Elsobky, Ezzat;
Nürnberg, Gudrun;
Nürnberg, Peter;
Seland, Saskia;
Ebermann, Inga;
Altmüller, Janine;
Thiele, Holger;
Toliat, Mohammad;
Körber, Friederike;
Xue-Jia Hu;
Wu, Yun-Dong;
Zaki, Maha S.;
Abdel-Salam, Ghada;
Gleeson, Joseph;
Boltshauser, Eugen;
Westerfield, Monte

Publication type:

Article

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2482, doi. 10.1093/hmg/ddv009

By:

Grati, M'hamed;
Chakchouk, Imen;
Qi Ma;
Bensaid, Mariem;
Desmidt, Alexandra;
Turki, Nouha;
Yan, Denise;
Baanannou, Aissette;
Mittal, Rahul;
Driss, Nabil;
Blanton, Susan;
Farooq, Amjad;
Zhongmin Lu;
Xue Zhong Liu;
Masmoudi, Saber

Publication type:

Article

Htt CAG repeat expansion confers pleiotropic gains of mutant huntingtin function in chromatin regulation.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2442, doi. 10.1093/hmg/ddv006

By:

Biagioli, Marta;
Ferrari, Francesco;
Mendenhall, Eric M.;
Yijing Zhang;
Erdin, Serkan;
Vijayvargia, Ravi;
Vallabh, Sonia M.;
Solomos, Nicole;
Manavalan, Poornima;
Ragavendran, Ashok;
Ozsolak, Fatih;
Jong Min Lee;
Talkowski, Michael E.;
Gusella, James F.;
Macdonald, Marcy E.;
Park, Peter J.;
Ihn Sik Seong

Publication type:

Article

A Huntingtin-based peptide inhibitor of caspase-6 provides protection from mutant Huntingtin-induced motor and behavioral deficits.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2604, doi. 10.1093/hmg/ddv023

By:

Aharony, Israel;
Ehrnhoefer, Dagmar E.;
Shruster, Adi;
Xiaofan Qiu;
Franciosi, Sonia;
Hayden, Michael R.;
Offen, Daniel

Publication type:

Article

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2662, doi. 10.1093/hmg/ddv030

By:

Pitcher, Meagan R.;
Herrera, José A.;
Buffington, Shelly A.;
Kochukov, Mikhail Y.;
Merritt, Jonathan K.;
Fisher, Amanda R.;
Schanen, N. Carolyn;
Costa-Mattioli, Mauro;
Neul, Jeffrey L.

Publication type:

Article

Frataxin inactivation leads to steroid deficiency in flies and human ovarian cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2615, doi. 10.1093/hmg/ddv024

By:

Palandri, Amandine;
L'hôte, David;
Cohen-Tannoudji, Joëlle;
Tricoire, Hervé;
Monnier, Véronique

Publication type:

Article

A systematic investigation of the contribution of genetic variation within the MHC region to HPV seropositivity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 9, p. 2681, doi. 10.1093/hmg/ddv015

By:

Dan Chen;
Gaborieau, Valérie;
Yao Zhao;
Chabrier, Amélie;
Huibo Wang;
Waterboer, Tim;
Zaridze, David;
Lissowska, Jolanta;
Rudnai, Peter;
Fabianova, Eleonora;
Bencko, Vladimir;
Janout, Vladimir;
Foretova, Lenka;
Mates, Ioan Nicolae;
Szeszenia-Dabrowska, Neonila;
Boffetta, Paolo;
Pawlita, Michael;
Lathrop, Mark;
Gyllensten, Ulf;
Brennan, Paul

Publication type:

Article