Works matching IS 09646906 AND DT 2018 AND VI 27 AND IP 21

Results: 15

Whole exome sequencing analysis in severe chronic obstructive pulmonary disease.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3801, doi. 10.1093/hmg/ddy269

By:

Qiao, Dandi;
Ameli, Asher;
Prokopenko, Dmitry;
Chen, Han;
Kho, Alvin T;
Parker, Margaret M;
Morrow, Jarrett;
Hobbs, Brian D;
Liu, Yanhong;
Beaty, Terri H

Publication type:

Article

Loss of Sarm1 does not suppress motor neuron degeneration in the SOD1G93A mouse model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3761, doi. 10.1093/hmg/ddy260

By:

Peters, Owen M;
Lewis, Elizabeth A;
Osterloh, Jeannette M;
Weiss, Alexandra;
Salameh, Johnny S;
Metterville, Jake;
Brown, Robert H;
Freeman, Marc R

Publication type:

Article

T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart fieldHuman Molecular Genetics, 2018, Vol. 27, No. 8Human Molecular Genetics, 2018, Vol. 27, No. 8.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3747, doi. 10.1093/hmg/ddy266

By:

Bono, Christopher De;
Thellier, Charlotte;
Bertrand, Nicolas;
Sturny, Rachel;
Jullian, Estelle;
Cortes, Claudio;
Stefanovic, Sonia;
Zaffran, Stéphane;
Théveniau-Ruissy, Magali;
Kelly, Robert G

Publication type:

Article

Targeting RAGE as a potential therapeutic approach to Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3734, doi. 10.1093/hmg/ddy288

By:

Sagheddu, Roberta;
Chiappalupi, Sara;
Salvadori, Laura;
Riuzzi, Francesca;
Donato, Rosario;
Sorci, Guglielmo

Publication type:

Article

Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3697, doi. 10.1093/hmg/ddy247

By:

Maclean, Andrew E;
Kimonis, Virginia E;
Balk, Janneke

Publication type:

Article

Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3825, doi. 10.1093/hmg/ddy291

By:

Jacquemont, Sébastien;
Pacini, Laura;
Jønch, Aia E;
Cencelli, Giulia;
Rozenberg, Izabela;
He, Yunsheng;
D'Andrea, Laura;
Pedini, Giorgia;
Eldeeb, Marwa;
Willemsen, Rob

Publication type:

Article

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3669, doi. 10.1093/hmg/ddy277

By:

Smigiel, Robert;
Sherman, Diane L;
Rydzanicz, Małgorzata;
Walczak, Anna;
Mikolajkow, Dorota;
Krolak-Olejnik, Barbara;
Kosińska, Joanna;
Gasperowicz, Piotr;
Biernacka, Anna;
Stawinski, Piotr

Publication type:

Article

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3651, doi. 10.1093/hmg/ddy241

By:

Cocciadiferro, Dario;
Augello, Bartolomeo;
Nittis, Pasquelena De;
Zhang, Jiyuan;
Mandriani, Barbara;
Malerba, Natascia;
Squeo, Gabriella M;
Romano, Alessandro;
Piccinni, Barbara;
Verri, Tiziano

Publication type:

Article

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomesHuman Molecular Genetics, Vol. 00, No. 0Human Molecular Genetics, Vol. 00, No. 0.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3710, doi. 10.1093/hmg/ddy287

By:

Whitley, Brittany N;
Lam, Christina;
Cui, Hong;
Haude, Katrina;
Bai, Renkui;
Escobar, Luis;
Hamilton, Afifa;
Brady, Lauren;
Tarnopolsky, Mark A;
Dengle, Lauren

Publication type:

Article

Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3813, doi. 10.1093/hmg/ddy280

By:

Hanscombe, Ken B;
Morris, David L;
Noble, Janelle A;
Dilthey, Alexander T;
Tombleson, Philip;
Kaufman, Kenneth M;
Comeau, Mary;
Langefeld, Carl D;
Alarcon-Riquelme, Marta E;
Gaffney, Patrick M

Publication type:

Article

COL18A1 is a candidate eye iridocorneal angle-closure gene in humans.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3772, doi. 10.1093/hmg/ddy256

By:

Suri, Fatemeh;
Yazdani, Shahin;
Chapi, Marjan;
Safari, Iman;
Rasooli, Paniz;
Daftarian, Narsis;
Jafarinasab, Mohammad Reza;
Firouzabadi, Saghar Ghasemi;
Alehabib, Elham;
Darvish, Hossein

Publication type:

Article

Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3720, doi. 10.1093/hmg/ddy263

By:

Gorvin, Caroline M;
Frost, Morten;
Malinauskas, Tomas;
Cranston, Treena;
Boon, Hannah;
Siebold, Christian;
Jones, E Yvonne;
Hannan, Fadil M;
Thakker, Rajesh V

Publication type:

Article

Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3688, doi. 10.1093/hmg/ddy283

By:

Serrano-Mendioroz, Irantzu;
Sampedro, Ana;
Serna, Naroa;
Salamanca, Rafael Enríquez de;
Sanz-Parra, Arantza;
Corrales, Fernando;
Berraondo, Pedro;
Millet, Oscar;
Fontanellas, Antonio

Publication type:

Article

Basonuclin 1 deficiency is a cause of primary ovarian insufficiency.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3787, doi. 10.1093/hmg/ddy261

By:

Zhang, Dan;
Liu, Yifeng;
Zhang, Zhou;
Lv, Pingping;
Liu, Yun;
Li, Jingyi;
Wu, Yiqing;
Zhang, Runjv;
Huang, Yun;
Xu, Gufeng

Publication type:

Article

ADAMTS10-mediated tissue disruption in Weill–Marchesani syndrome.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 21, p. 3675, doi. 10.1093/hmg/ddy276

By:

Mularczyk, Ewa J;
Singh, Mukti;
Godwin, Alan R F;
Galli, Francessco;
Humphreys, Neil;
Adamson, Antony D;
Mironov, Aleksandr;
Cain, Stuart A;
Sengle, Gerhard;
Boot-Handford, Ray P

Publication type:

Article