Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 16

Results: 19

SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3234, doi. 10.1093/hmg/ddx232
By:
- Zhaoxin Ma;
- Wenjun Xia;
- Fei Liu;
- Jing Ma;
- Shaoyang Sun;
- Jin Zhang;
- Nan Jiang;
- Xu Wang;
- Jiongjiong Hu;
- Duan Ma
Publication type:
Article
Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 312, doi. 10.1093/hmg/ddx204
By:
- Coble, Joel L.;
- Sheldon, Kathryn E.;
- Feng Yue;
- Salameh, Tarik J.;
- Harris III, Leonard R.;
- Sue Deiling;
- Ruggiero, Francesca M.;
- Eshelman, Melanie A.;
- Yochum, Gregory S.;
- Koltun, Walter A.;
- Gerhard, Glenn S.;
- Broach, James R.
Publication type:
Article
Spatial-temporal transcriptional dynamics of long non-coding RNAs in human brain.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3202, doi. 10.1093/hmg/ddx203
By:
- Xiao-Qin Zhang;
- Ze-Lin Wang;
- Ming-Wai Poon;
- Jian-Hua Yang
Publication type:
Article
Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3186, doi. 10.1093/hmg/ddx202
By:
- Cuillerier, Alexanne;
- Honarmand, Shamisa;
- Cadete, Virgilio J. J.;
- Ruiz, Matthieu;
- Forest, Anik;
- Deschênes, Sonia;
- Beauchamp, Claudine;
- Charron, Guy;
- Rioux, John D.;
- Rosiers, Christine Des;
- Shoubridge, Eric A.;
- Burelle, Yan
Publication type:
Article
Evidence that phosphorylated ubiquitin signaling is involved in the etiology of Parkinson's disease.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3172, doi. 10.1093/hmg/ddx201
By:
- Kahori Shiba-Fukushima;
- Kei-Ichi Ishikawa;
- Tsuyoshi Inoshita;
- Nana Izawa;
- Masashi Takanashi;
- Shigeto Sato;
- Osamu Onodera;
- Wado Akamatsu;
- Hideyuki Okano;
- Yuzuru Imai;
- Nobutaka Hattori
Publication type:
Article
Homozygous deletion of SUN5 in three men with decapitated spermatozoa.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3167, doi. 10.1093/hmg/ddx200
By:
- Elkhatib, Razan A.;
- Paci, Marine;
- Longepied, Guy;
- Saias-Magnan, Jacqueline;
- Courbière, Blandine;
- Guichaoua, Marie-Roberte;
- Lévy, Nicolas;
- Metzler-Guillemain, Catherine;
- Mitchell, Michael J.
Publication type:
Article
A homozygous donor splice-site mutation in the meiotic gene MSH4 causes primary ovarian insufficiency.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3161, doi. 10.1093/hmg/ddx199
By:
- Carlosama, Carolina;
- Elzaiat, Maëva;
- Patiño, Liliana C.;
- Mateus, Heidi E.;
- Veitia, Reiner A.;
- Laissue, Paul
Publication type:
Article
7,8-dihydroxyflavone ameliorates cognitive and motor deficits in a Huntington's disease mouse model through specific activation of the PLCγ1 pathway.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3144, doi. 10.1093/hmg/ddx198
By:
- Barriga, Gerardo García-Díaz;
- Giralt, Albert;
- Anglada-Huguet, Marta;
- Gaja-Capdevila, Nuria;
- Orlandi, Javier G.;
- Soriano, Jordi;
- Canals, Josep-Maria;
- Alberch, Jordi
Publication type:
Article
Altered organization of the intermediate filament cytoskeleton and relocalization of proteostasis modulators in cells lacking the ataxia protein sacsin.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3130, doi. 10.1093/hmg/ddx197
By:
- Duncan, Emma J.;
- Larivière, Roxanne;
- Bradshaw, Teisha Y.;
- Longo, Fabiana;
- Sgarioto, Nicolas;
- Hayes, Matthew J.;
- Romano, Lisa E. L.;
- Nethisinghe, Suran;
- Giunti, Paola;
- Bruntraeger, Michaela B.;
- Durham, Heather D.;
- Brais, Bernard;
- Maltecca, Francesca;
- Gentil, Benoit J.;
- Chapple, J. Paul
Publication type:
Article
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3116, doi. 10.1093/hmg/ddx196
By:
- Xiaojiao Xue;
- Mutyam, Venkateshwar;
- Thakerar, Amita;
- Mobley, James;
- Bridges, Robert J.;
- Rowe, Steven M.;
- Keeling, Kim M.;
- Bedwell, David M.
Publication type:
Article
Genotype--phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3105, doi. 10.1093/hmg/ddx195
By:
- Zaki, Osama K.;
- C., George Priya Doss;
- Ali, Salsabil A.;
- Murad, Ghadeer G.;
- Elashi, Shaima A.;
- Ebnou, Maryam S. A.;
- D., Thirumal Kumar;
- Khalifa, Ola;
- Gamal, Radwa;
- El Abd, Heba S. A.;
- N. Nasr, Bilal;
- Zayed, Hatem
Publication type:
Article
Tea and coffee consumption in relation to DNA methylation in four European cohorts.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3221, doi. 10.1093/hmg/ddx194
By:
- Ek, Weronica E.;
- Tobi, Elmar W.;
- Ahsan, Muhammad;
- Lampa, Erik;
- Ponzi, Erica;
- Kyrtopoulos, Soterios A.;
- Georgiadis, Panagiotis;
- Lumey, L. H.;
- Heijmans, Bastiaan T.;
- Botsivali, Maria;
- Bergdahl, Ingvar A.;
- Karlsson, Torgny;
- Rask-Andersen, Mathias;
- Palli, Domenico;
- Ingelsson, Erik;
- Hedman, Åsa K.;
- Nilsson, Lena M.;
- Vineis, Paolo;
- Lind, Lars;
- Flanagan, James M.
Publication type:
Article
Alternative splicing in the C-terminal tail of Ca<sub>v</sub>2.1 is essential for preventing a neurological disease in mice.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3094, doi. 10.1093/hmg/ddx193
By:
- Tomonori Aikawa;
- Takaki Watanabe;
- Taisuke Miyazaki;
- Takayasu Mikuni;
- Minoru Wakamori;
- Miyano Sakurai;
- Hidenori Aizawa;
- Nobutaka Ishizu;
- Masahiko Watanabe;
- Masanobu Kano;
- Hidehiro Mizusawa;
- Kei Watase
Publication type:
Article
Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3081, doi. 10.1093/hmg/ddx192
By:
- Cho, Anna;
- Christine, May;
- Malicdan, V.;
- Miyakawa, Miho;
- Ikuya Nonaka;
- Ichizo Nishino;
- Satoru Noguchi
Publication type:
Article
Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3069, doi. 10.1093/hmg/ddx191
By:
- Pflieger, Lance T.;
- Dansithong, Warunee;
- Paul, Sharan;
- Scoles, Daniel R.;
- Figueroa, Karla P.;
- Meera, Pratap;
- Otis, Thomas S.;
- Facelli, Julio C.;
- Pulst, Stefan M.
Publication type:
Article
A flow cytometry-based screen identifies MBNL1 modulators that rescue splicing defects in myotonic dystrophy type I.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3056, doi. 10.1093/hmg/ddx190
By:
- Fan Zhang;
- Bodycombe, Nicole E.;
- Haskell, Keith M.;
- Sun, Yumei L.;
- Wang, Eric T.;
- Morris, Carl A.;
- Jones, Lyn H.;
- Wood, Lauren D.;
- Pletcher, Mathew T.
Publication type:
Article
Generalized metabolic bone disease and fracture risk in Rothmund-Thomson syndrome.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3046, doi. 10.1093/hmg/ddx178
By:
- Cao, Felicia;
- Linchao Lu;
- Abrams, Steven A.;
- Hawthorne, Keli M.;
- Tam, Allison;
- Weidong Jin;
- Dawson, Brian;
- Shypailo, Roman;
- Hao Liu;
- Lee, Brendan;
- Nagamani, Sandesh C. S.;
- Wang, Lisa L.
Publication type:
Article
A knockin mouse model of spinocerebellar ataxia type 3 exhibits prominent aggregate pathology and aberrant splicing of the disease gene transcript.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3232, doi. 10.1093/hmg/ddx176
By:
- Ramani, Biswarathan;
- Harris, Ginny M.;
- Huang, Rogerio;
- Takahiro Seki;
- Murphy, Geoffrey G.;
- Costa, Maria do Carmo;
- Fischer, Svetlana;
- Saunders, Thomas L.;
- Guangbin Xia;
- McEachin, Richard C.;
- Paulson, Henry L.
Publication type:
Article
Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 16, p. 3031, doi. 10.1093/hmg/ddx140
By:
- Chunbo Yang;
- Yaobo Xu;
- Min Yu;
- Lee, David;
- Alharti, Sameer;
- Hellen, Nicola;
- Shaik, Noor Ahmad;
- Banaganapalli, Babajan;
- Ali Mohamoud, Hussein Sheikh;
- Elango, Ramu;
- Przyborski, Stefan;
- Tenin, Gennadiy;
- Williams, Simon;
- O'Sullivan, John;
- Al-Radi, Osman O.;
- Atta, Jameel;
- Harding, Sian E.;
- Keavney, Bernard;
- Lako, Majlinda;
- Armstrong, Lyle
Publication type:
Article