Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 19

Results: 25

Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5581, doi. 10.1093/hmg/ddv290
By:
- Okutman, Ozlem;
- Muller, Jean;
- Baert, Yoni;
- Serdarogullari, Munevver;
- Gultomruk, Meral;
- Piton, Amélie;
- Rombaut, Charlotte;
- Benkhalifa, Moncef;
- Teletin, Marius;
- Skory, Valerie;
- Bakircioglu, Emre;
- Goossens, Ellen;
- Bahceci, Mustafa;
- Viville, Stéphane
Publication type:
Article
Phospholipid transfer protein (PLTP) deficiency accelerates memory dysfunction through altering amyloid precursor protein (APP) processing in a mouse model of Alzheimer's disease.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5388, doi. 10.1093/hmg/ddv262
By:
- Yawei Tong;
- Yang Sun;
- Xiaosheng Tian;
- Ting Zhou;
- Hecheng Wang;
- Tao Zhang;
- Rui Zhan;
- Lei Zhao;
- Bolati Kuerban;
- Zhengqian Li;
- Qiudian Wang;
- Yinglan Jin;
- Dongsheng Fan;
- Xiangyang Guo;
- Hongbin Han;
- Shucun Qin;
- Dehua Chui
Publication type:
Article
COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5404, doi. 10.1093/hmg/ddv265
By:
- Stroud, David A.;
- Maher, Megan J.;
- Lindau, Caroline;
- Vögtle, F.-Nora;
- Frazier, Ann E.;
- Surgenor, Elliot;
- Mountford, Hayley;
- Singh, Abeer P.;
- Bonas, Matteo;
- Oeljeklaus, Silke;
- Warscheid, Bettina;
- Meisinger, Chris;
- Thorburn, David R.;
- Ryan, Michael T.
Publication type:
Article
Retinitis pigmentosa: impact of different Pde6a point mutations on the disease phenotype.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5486, doi. 10.1093/hmg/ddv275
By:
- Sothilingam, Vithiyanjali;
- Garrido, Marina Garcia;
- Jiao, Kangwei;
- Buena-Atienza, Elena;
- Sahaboglu, Ayse;
- Trifunovič2, Dragana;
- Balendran, Sukirthini;
- Koepfli, Tanja;
- Mühlfriedel, Regine;
- Schön, Christian;
- Biel, Martin;
- Heckmann, Angelique;
- Beck, Susanne C.;
- Michalakis, Stylianos;
- Wissinger, Bernd;
- Seeliger, Mathias W.;
- Paquet-Durand, François
Publication type:
Article
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5500, doi. 10.1093/hmg/ddv276
By:
- Oppici, Elisa;
- Fargue, Sonia;
- Reid, Emma S.;
- Mills, Philippa B.;
- Clayton, Peter T.;
- Danpure, Christopher J.;
- Cellini, Barbara
Publication type:
Article
Mutations within the LINC-HELLP non-coding RNA differentially bind ribosomal and RNA splicing complexes and negatively affect trophoblast differentiation.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5475, doi. 10.1093/hmg/ddv274
By:
- van Dijk, Marie;
- Visser, Allerdien;
- Buabeng, Kwadwo M. L.;
- Poutsma, Ankie;
- van der Schors, Roel C.;
- Oudejans, Cees B. M.
Publication type:
Article
Low-frequency germline variants across 6p22.2-6p21.33 are associated with non-obstructive azoospermia in Han Chinese men.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5628, doi. 10.1093/hmg/ddv257
By:
- Bixian Ni;
- Yuan Lin;
- Liangdan Sun;
- Meng Zhu;
- Zheng Li;
- Hui Wang;
- Jun Yu;
- Xuejiang Guo;
- Xianbo Zuo;
- Jing Dong;
- Yankai Xia;
- Yang Wen;
- Hao Wu;
- Honggang Li;
- Yong Zhu;
- Ping Ping;
- Xiangfeng Chen;
- Juncheng Dai;
- Yue Jiang;
- Peng Xu
Publication type:
Article
N-acetylcysteine treatment ameliorates the skeletal phenotype of a mouse model of diastrophic dysplasia.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5570, doi. 10.1093/hmg/ddv289
By:
- Monti, Luca;
- Paganini, Chiara;
- Lecci, Silvia;
- De Leonardis, Fabio;
- Hay, Eric;
- Cohen-Solal, Martine;
- Villani, Simona;
- Superti-Furga, Andrea;
- Tenni, Ruggero;
- Forlino, Antonella;
- Rossi, Antonio
Publication type:
Article
SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5524, doi. 10.1093/hmg/ddv283
By:
- McGovern, Vicki L.;
- Iyer, Chitra C.;
- Arnold, W. David;
- Gombash, Sara E.;
- Zaworski, Phillip G.;
- Blatnik III, Anton J.;
- Foust, Kevin D.;
- Burghes, Arthur H. M.
Publication type:
Article
A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5619, doi. 10.1093/hmg/ddv256
By:
- Matesanz, Fuencisla;
- Potenciano, Victor;
- Fedetz, Maria;
- Ramos-Mozo, Priscila;
- Abad-Grau, María del Mar;
- Karaky, Mohamad;
- Barrionuevo, Cristina;
- Izquierdo, Guillermo;
- Ruiz-Peña, Juan Luis;
- García-Sánchez, María Isabel;
- Lucas, Miguel;
- Fernández, Óscar;
- Leyva, Laura;
- Otaegui, David;
- Muñoz-Culla, Maider;
- Olascoaga, Javier;
- Vandenbroeck, Koen;
- Alloza, Iraide;
- Astobiza, Ianire;
- Antigüedad, Alfredo
Publication type:
Article
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5378, doi. 10.1093/hmg/ddv261
By:
- Koparir, Asuman;
- Karatas, Omer F.;
- Yuceturk, Betul;
- Yuksel, Bayram;
- Bayrak, Ali O.;
- Gerdan, Omer F.;
- Sagiroglu, Mahmut S.;
- Gezdirici, Alper;
- Kirimtay, Koray;
- Selcuk, Ece;
- Karabay, Arzu;
- Creighton, Chad J.;
- Yuksel, Adnan;
- Ozen, Mustafa
Publication type:
Article
Homozygous loss-of-function variants in European cosmopolitan and isolate populations.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5464, doi. 10.1093/hmg/ddv272
By:
- Kaiser, Vera B.;
- Svinti, Victoria;
- Prendergast, James G.;
- You-Ying Chau;
- Campbell, Archie;
- Patarcic, Inga;
- Barroso, Inês;
- Joshi, Peter K.;
- Hastie, Nicholas D.;
- Miljkovic, Ana;
- Taylor, Martin S.;
- Scotland, Generation;
- Enroth, Stefan;
- Memari, Yasin;
- Kolb-Kokocinski, Anja;
- Wright, Alan F.;
- Gyllensten, Ulf;
- Durbin, Richard;
- Rudan, Igor;
- Campbell, Harry
Publication type:
Article
Heterozygote carriers for CNVs in PARK2 are at increased risk of Parkinson's disease.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5637, doi. 10.1093/hmg/ddv277
By:
- Huttenlocher, Johanna;
- Stefansson, Hreinn;
- Steinberg, Stacy;
- Helgadottir, Hafdis T.;
- Sveinbjörnsdóttir, Sigurlaug;
- Riess, Olaf;
- Bauer, Peter;
- Stefansson, Kari
Publication type:
Article
Integration of multiethnic fine-mapping and genomic annotation to prioritize candidate functional SNPs at prostate cancer susceptibility regions.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5603, doi. 10.1093/hmg/ddv269
By:
- Ying Han;
- Hazelett, Dennis J.;
- Wiklund, Fredrik;
- Schumacher, Fredrick R.;
- Stram, Daniel O.;
- Berndt, Sonja I.;
- Zhaoming Wang;
- Rand, Kristin A.;
- Hoover, Robert N.;
- Machiela, Mitchell J.;
- Yeager, Merideth;
- Burdette, Laurie;
- Chung, Charles C.;
- Hutchinson, Amy;
- Yu, Kai;
- Jianfeng Xu;
- Travis, Ruth C.;
- Key, Timothy J.;
- Siddiq, Afshan;
- Canzian, Federico
Publication type:
Article
A rare P2X7 variant Arg307Gln with absent pore formation function protects against neuroinflammation in multiple sclerosis.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5644, doi. 10.1093/hmg/ddv278
By:
- Ben J. Gu;
- Field, Judith;
- Dutertre, Sébastien;
- Ou, Amber;
- Kilpatrick, Trevor J.;
- Lechner-Scott, Jeannette;
- Scott, Rodney;
- Lea, Rodney;
- Taylor, Bruce V.;
- Stankovich, Jim;
- Butzkueven, Helmut;
- Gresle, Melissa;
- Laws, Simon M.;
- Petrou, Steven;
- Hoffjan, Sabine;
- Akkad, Denis A.;
- Graham, Colin A.;
- Hawkins, Stanley;
- Glaser, Anna;
- Bedri, Sahl Khalid
Publication type:
Article
SMN deficiency disrupts gastrointestinal and enteric nervous system function in mice.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5565, doi. 10.1093/hmg/ddv292
Publication type:
Article
Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5512, doi. 10.1093/hmg/ddv282
By:
- Gokhale, Avanti;
- Vrailas-Mortimer, Alysia;
- Larimore, Jennifer;
- Comstra, Heather S.;
- Zlatic, Stephanie A.;
- Werner, Erica;
- Manvich, Daniel F.;
- Iuvone, P. Michael;
- Weinshenker, David;
- Faundez, Victor
Publication type:
Article
A local complement response by RPE causes early-stage macular degeneration.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5555, doi. 10.1093/hmg/ddv287
By:
- Fernandez-Godino, Rosario;
- Garland, Donita L.;
- Pierce, Eric A.
Publication type:
Article
Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5542, doi. 10.1093/hmg/ddv285
By:
- Yu-Han Chin;
- Albert Lee;
- Hung-Wei Kan;
- Laiman, Jessica;
- Mei-Chun Chuang;
- Sung-Tsang Hsieh;
- Ya-Wen Liu
Publication type:
Article
Cln1 gene disruption in mice reveals a common pathogenic link between two of the most lethal childhood neurodegenerative lysosomal storage disorders.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5416, doi. 10.1093/hmg/ddv266
By:
- Chandra, Goutam;
- Bagh, Maria B.;
- Shiyong Peng;
- Saha, Arjun;
- Sarkar, Chinmoy;
- Moralle, Matthew;
- Zhongjian Zhang;
- Mukherjee, Anil B.
Publication type:
Article
Multiple novel prostate cancer susceptibility signals identified by fine-mapping of known risk loci among Europeans.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5589, doi. 10.1093/hmg/ddv203
By:
- Al Olama, Ali Amin;
- Dadaev, Tokhir;
- Hazelett, Dennis J.;
- Qiuyan Li;
- Leongamornlert, Daniel;
- Saunders, Edward J.;
- Stephens, Sarah;
- Cieza-Borrella, Clara;
- Whitmore, Ian;
- Garcia, Sara Benlloch;
- Giles, Graham G.;
- Southey, Melissa C.;
- Fitzgerald, Liesel;
- Gronberg, Henrik;
- Wiklund, Fredrik;
- Aly, Markus;
- Henderson, Brian E.;
- Schumacher, Fredrick;
- Haiman, Christopher A.;
- Schleutker, Johanna
Publication type:
Article
Genomic analysis reveals distinct mechanisms and functional classes of SOX10-regulated genes in melanocytes.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5433, doi. 10.1093/hmg/ddv267
By:
- Fufa, Temesgen D.;
- Harris, Melissa L.;
- Watkins-Chow, Dawn E.;
- Levy, Denise;
- Gorkin, David U.;
- Gildea, Derek E.;
- Song, Lingyun;
- Safi, Alexias;
- Crawford, Gregory E.;
- Sviderskaya, Elena V.;
- Bennett, Dorothy C.;
- Mccallion, Andrew S.;
- Loftus, Stacie K.;
- Pavan, William J.
Publication type:
Article
Histone deacetylase 1 regulates tissue destruction in rheumatoid arthritis.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5367, doi. 10.1093/hmg/ddv258
By:
- Hawtree, Sarah;
- Muthana, Munitta;
- Wilkinson, J. Mark;
- Akil, Mohammed;
- Wilson, Anthony G.
Publication type:
Article
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5655, doi. 10.1093/hmg/ddv279
By:
- Vuckovic, Dragana;
- Dawson, Sally;
- Scheffer, Deborah I.;
- Rantanen, Taina;
- Morgan, Anna;
- Di Stazio, Mariateresa;
- Vozzi, Diego;
- Nutile, Teresa;
- Concas, Maria P.;
- Biino, Ginevra;
- Nolan, Lisa;
- Bahl, Aileen;
- Loukola, Anu;
- Viljanen, Anne;
- Davis, Adrian;
- Ciullo, Marina;
- Corey, David P.;
- Pirastu, Mario;
- Gasparini, Paolo;
- Girotto, Giorgia
Publication type:
Article
Neuropeptide Y mitigates neuropathology and motor deficits in mouse models of Machado-Joseph disease.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 19, p. 5451, doi. 10.1093/hmg/ddv271
By:
- Duarte-Neves, Joana;
- Gonçalves, Nélio;
- Cunha-Santos, Janete;
- Simões, Ana Teresa;
- den Dunnen, Wilfred F. A.;
- Hirokazu Hirai;
- Kügler, Sebastian;
- Cavadas, Cláudia;
- de Almeida, Luís Pereira
Publication type:
Article