Works matching IS 10597794 AND DT 2017 AND VI 38 AND IP 6

Results: 15

A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 658, doi. 10.1002/humu.23201
By:
- White, Tommy E.;
- Brandariz‐Nuñez, Alberto;
- Martinez‐Lopez, Alicia;
- Knowlton, Caitlin;
- Lenzi, Gina;
- Kim, Baek;
- Ivanov, Dmitri;
- Diaz‐Griffero, Felipe
Publication type:
Article
Purinergic receptors P2RX4 and P2RX7 in familial multiple sclerosis.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 736, doi. 10.1002/humu.23218
By:
- Sadovnick, A Dessa;
- Gu, Ben J;
- Traboulsee, Anthony L;
- Bernales, Cecily Q;
- Encarnacion, Mary;
- Yee, Irene M;
- Criscuoli, Maria G;
- Huang, Xin;
- Ou, Amber;
- Milligan, Carol J;
- Petrou, Steven;
- Wiley, James S;
- Vilariño‐Güell, Carles
Publication type:
Article
Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 678, doi. 10.1002/humu.23208
By:
- Bravo‐Alonso, Irene;
- Navarrete, Rosa;
- Arribas‐Carreira, Laura;
- Perona, Almudena;
- Abia, David;
- Couce, María Luz;
- García‐Cazorla, Angels;
- Morais, Ana;
- Domingo, Rosario;
- Ramos, María Antonia;
- Swanson, Michael A.;
- Hove, Johan L.K.;
- Ugarte, Magdalena;
- Pérez, Belén;
- Pérez‐Cerdá, Celia;
- Rodríguez‐Pombo, Pilar
Publication type:
Article
Issue Information.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 609, doi. 10.1002/humu.23091
Publication type:
Article
A functional SNP regulated by miR-196a-3p in the 3′UTR of FGF2 is associated with bone mineral density in the Chinese population.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 725, doi. 10.1002/humu.23216
By:
- Zhu, Dong‐Li;
- Guo, Yan;
- Zhang, Yan;
- Dong, Shan‐Shan;
- Xu, Wen;
- Hao, Ruo‐Han;
- Chen, Xiao‐Feng;
- Yan, Han;
- Yang, Shui‐Yun;
- Yang, Tie‐Lin
Publication type:
Article
Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 692, doi. 10.1002/humu.23210
By:
- Baertling, Fabian;
- Al‐Murshedi, Fathiya;
- Sánchez‐Caballero, Laura;
- Al‐Senaidi, Khalfan;
- Joshi, Niranjan P;
- Venselaar, Hanka;
- den Brand, Mariël AM;
- Nijtmans, Leo GJ;
- Rodenburg, Richard JT
Publication type:
Article
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 611, doi. 10.1002/humu.23211
By:
- Kernohan, Kristin D.;
- Frésard, Laure;
- Zappala, Zachary;
- Hartley, Taila;
- Smith, Kevin S.;
- Wagner, Justin;
- Xu, Hongbin;
- McBride, Arran;
- Bourque, Pierre R.;
- Consortium, Care4Rare Canada;
- Bennett, Steffany A. L.;
- Dyment, David A.;
- Boycott, Kym M.;
- Montgomery, Stephen B.;
- Warman Chardon, Jodi
Publication type:
Article
Single-base substitutions in the CHM promoter as a cause of choroideremia.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 704, doi. 10.1002/humu.23212
By:
- Radziwon, Alina;
- Arno, Gavin;
- K. Wheaton, Dianna;
- McDonagh, Ellen M.;
- Baple, Emma L.;
- Webb‐Jones, Kaylie;
- G. Birch, David;
- Webster, Andrew R.;
- MacDonald, Ian M.
Publication type:
Article
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 615, doi. 10.1002/humu.23213
By:
- Alsina Casanova, Miguel;
- Monteagudo‐Sánchez, Ana;
- Rodiguez Guerineau, Luciana;
- Court, Franck;
- Gazquez Serrano, Isabel;
- Martorell, Loreto;
- Rovira Zurriaga, Carlota;
- Moore, Gudrun E.;
- Ishida, Miho;
- Castañon, Montserrat;
- Moliner Calderon, Elisenda;
- Monk, David;
- Moreno Hernando, Julio
Publication type:
Article
Rare deleterious variants in GRHL3 are associated with human spina bifida.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 716, doi. 10.1002/humu.23214
By:
- Lemay, Philippe;
- Marco, Patrizia;
- Emond, Alexandre;
- Spiegelman, Dan;
- Dionne‐Laporte, Alexandre;
- Laurent, Sandra;
- Merello, Elisa;
- Accogli, Andrea;
- Rouleau, Guy A;
- Capra, Valeria;
- Kibar, Zoha
Publication type:
Article
A variant in a cis-regulatory element enhances claudin-14 expression and is associated with pediatric-onset hypercalciuria and kidney stones.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 649, doi. 10.1002/humu.23202
By:
- Ure, Megan E.;
- Heydari, Emma;
- Pan, Wanling;
- Ramesh, Ajay;
- Rehman, Sabah;
- Morgan, Catherine;
- Pinsk, Maury;
- Erickson, Robin;
- Herrmann, Johannes M.;
- Dimke, Henrik;
- Cordat, Emmanuelle;
- Lemaire, Mathieu;
- Walter, Michael;
- Alexander, R. Todd
Publication type:
Article
Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 621, doi. 10.1002/humu.23205
By:
- Musante, Luciana;
- Püttmann, Lucia;
- Kahrizi, Kimia;
- Garshasbi, Masoud;
- Hu, Hao;
- Stehr, Henning;
- Lipkowitz, Bettina;
- Otto, Sabine;
- Jensen, Lars R.;
- Tzschach, Andreas;
- Jamali, Payman;
- Wienker, Thomas;
- Najmabadi, Hossein;
- Ropers, Hans Hilger;
- Kuss, Andreas W.
Publication type:
Article
Characterization of chromosomal abnormalities in pregnancy losses reveals critical genes and loci for human early development.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 669, doi. 10.1002/humu.23207
By:
- Chen, Yiyun;
- Bartanus, Justin;
- Liang, Desheng;
- Zhu, Hongmin;
- Breman, Amy M;
- Smith, Janice L;
- Wang, Hua;
- Ren, Zhilin;
- Patel, Ankita;
- Stankiewicz, Pawel;
- Cram, David S;
- Cheung, Sau Wai;
- Wu, Lingqian;
- Yu, Fuli
Publication type:
Article
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. 637, doi. 10.1002/humu.23200
By:
- Imagawa, Eri;
- Higashimoto, Ken;
- Sakai, Yasunari;
- Numakura, Chikahiko;
- Okamoto, Nobuhiko;
- Matsunaga, Satoko;
- Ryo, Akihide;
- Sato, Yoshinori;
- Sanefuji, Masafumi;
- Ihara, Kenji;
- Takada, Yui;
- Nishimura, Gen;
- Saitsu, Hirotomo;
- Mizuguchi, Takeshi;
- Miyatake, Satoko;
- Nakashima, Mitsuko;
- Miyake, Noriko;
- Soejima, Hidenobu;
- Matsumoto, Naomichi
Publication type:
Article
Cover Image, Volume 38, Issue 6.
Published in:
Human Mutation, 2017, v. 38, n. 6, p. i, doi. 10.1002/humu.23244
By:
- Imagawa, Eri;
- Higashimoto, Ken;
- Sakai, Yasunari;
- Numakura, Chikahiko;
- Okamoto, Nobuhiko;
- Matsunaga, Satoko;
- Ryo, Akihide;
- Sato, Yoshinori;
- Sanefuji, Masafumi;
- Ihara, Kenji;
- Takada, Yui;
- Nishimura, Gen;
- Saitsu, Hirotomo;
- Mizuguchi, Takeshi;
- Miyatake, Satoko;
- Nakashima, Mitsuko;
- Miyake, Noriko;
- Soejima, Hidenobu;
- Matsumoto, Naomichi
Publication type:
Article