Works matching IS 09646906 AND DT 2019 AND VI 28 AND IP 19

Results: 16

Integrating Mendelian randomization and multiple-trait colocalization to uncover cell-specific inflammatory drivers of autoimmune and atopic disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3293, doi. 10.1093/hmg/ddz155

By:

McGowan, Lucy M;
Smith, George Davey;
Gaunt, Tom R;
Richardson, Tom G

Publication type:

Article

Transcription of PIK3CD in human brain and schizophrenia: regulation by proinflammatory cytokines.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3188, doi. 10.1093/hmg/ddz144

By:

Hood, Veronica L;
Berger, Ralph;
Freedman, Robert;
Law, Amanda J

Publication type:

Article

AAV9-mediated delivery of miR-23a reduces disease severity in Smn<sup>2B/−</sup>SMA model mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3199, doi. 10.1093/hmg/ddz142

By:

Kaifer, Kevin A;
Villalón, Eric;
O'Brien, Benjamin S;
Sison, Samantha L;
Smith, Caley E;
Simon, Madeline E;
Marquez, Jose;
O'Day, Siri;
Hopkins, Abigail E;
Neff, Rachel;
Rindt, Hansjörg;
Ebert, Allison D;
Lorson, Christian L

Publication type:

Article

LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3323, doi. 10.1093/hmg/ddz168

By:

Marakhonov, Andrey V;
Vasilyeva, Tatyana A;
Voskresenskaya, Anna A;
Sukhanova, Natella V;
Kadyshev, Vitaly V;
Kutsev, Sergey I;
Zinchenko, Rena A

Publication type:

Article

Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3301, doi. 10.1093/hmg/ddz167

By:

Malerba, Alberto;
Klein, Pierre;
Lu-Nguyen, Ngoc;
Cappellari, Ornella;
Strings-Ufombah, Vanessa;
Harbaran, Sonal;
Roelvink, Peter;
Suhy, David;
Trollet, Capucine;
Dickson, George

Publication type:

Article

Loss of Cln5 leads to altered Gad1 expression and deficits in interneuron development in mice.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3309, doi. 10.1093/hmg/ddz165

By:

Singh, Yajuvinder;
Leinonen, Henri;
Fazaludeen, Feroze;
Jaronen, Merja;
Guest, Debbie;
Buckley, Noel;
Byts, Nadiya;
Oksa, Petra;
Jalkanen, Kari;
Iqbal, Imran;
Huuskonen, Mikko;
Savchenko, Ekaterina;
Keksa-Goldsteine, Velta;
Chew, Sweelin;
Myllyharju, Johanna;
Tanila, Heikki;
Ooi, Lezanne;
Koistinaho, Jari;
Kanninen, Katja M;
Malm, Tarja

Publication type:

Article

Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3244, doi. 10.1093/hmg/ddz136

By:

Jinn, Sarah;
Blauwendraat, Cornelis;
Toolan, Dawn;
Gretzula, Cheryl A;
Drolet, Robert E;
Smith, Sean;
Nalls, Mike A;
Marcus, Jacob;
Singleton, Andrew B;
Stone, David J

Publication type:

Article

G-quadruplex-mediated reduction of a pathogenic mitochondrial heteroplasmy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3163, doi. 10.1093/hmg/ddz153

By:

Naeem, Mansur M;
Maheshan, Rathena;
Costford, Sheila R;
Wahedi, Azizia;
Trajkovski, Marko;
Plavec, Janez;
Yatsunyk, Liliya A;
Ciesielski, Grzegorz L;
Kaufman, Brett A;
Sondheimer, Neal

Publication type:

Article

A trans-ancestral meta-analysis of genome-wide association studies reveals loci associated with childhood obesity.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3327, doi. 10.1093/hmg/ddz161

By:

Bradfield, Jonathan P;
Vogelezang, Suzanne;
Felix, Janine F;
Chesi, Alessandra;
Helgeland, Øyvind;
Horikoshi, Momoko;
Karhunen, Ville;
Lowry, Estelle;
Cousminer, Diana L;
Ahluwalia, Tarunveer S;
Thiering, Elisabeth;
Boh, Eileen Tai-Hui;
Zafarmand, Mohammad H;
Vilor-Tejedor, Natalia;
Wang, Carol A;
Joro, Raimo;
Chen, Zhanghua;
Gauderman, William J;
Pitkänen, Niina;
Parra, Esteban J

Publication type:

Article

Loss of FLCN inhibits canonical WNT signaling via TFE3.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3270, doi. 10.1093/hmg/ddz158

By:

Kennedy, John C;
Khabibullin, Damir;
Hougard, Thomas;
Nijmeh, Julie;
Shi, Wei;
Henske, Elizabeth P

Publication type:

Article

Combining P301L and S320F tau variants produces a novel accelerated model of tauopathy.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3255, doi. 10.1093/hmg/ddz151

By:

Koller, Emily J;
Cruz, Elsa Gonzalez De La;
Machula, Timothy;
Ibanez, Kristen R;
Lin, Wen-Lang;
Williams, Tosha;
Riffe, Cara J;
Ryu, Daniel;
Strang, Kevin H;
Liu, Xuefei;
Janus, Christopher;
Golde, Todd E;
Dickson, Dennis;
Giasson, Benoit I;
Chakrabarty, Paramita

Publication type:

Article

Mitochondrial clearance and maturation of autophagosomes are compromised in LRRK2 G2019S familial Parkinson's disease patient fibroblasts.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3232, doi. 10.1093/hmg/ddz126

By:

Korecka, Joanna A;
Thomas, Ria;
Christensen, Dan P;
Hinrich, Anthony J;
Ferrari, Eliza J;
Levy, Simon A;
Hastings, Michelle L;
Hallett, Penelope J;
Isacson, Ole

Publication type:

Article

Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3282, doi. 10.1093/hmg/ddz150

By:

Pilato, Celeste M;
Park, Jae Hong;
Kong, Lingling;
d'Ydewalle, Constantin;
Valdivia, David;
Chen, Karen S;
Griswold-Prenner, Irene;
Sumner, Charlotte J

Publication type:

Article

A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3211, doi. 10.1093/hmg/ddz147

By:

Schteingart, Helena F;
Picard, Jean-Yves;
Valeri, Clara;
Marshall, Ian;
Treton, Dominique;
Clemente, Nathalie di;
Rey, Rodolfo A;
Josso, Nathalie

Publication type:

Article

YWHAE long non-coding RNA competes with miR-323a-3p and miR-532-5p through activating K-Ras/Erk1/2 and PI3K/Akt signaling pathways in HCT116 cells.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3219, doi. 10.1093/hmg/ddz146

By:

Bjeije, Hassan;
Soltani, Bahram Mohammad;
Behmanesh, Mehrdad;
Zali, Mohammad Reza

Publication type:

Article

Overexpression of the Cdk5 inhibitory peptide in motor neurons rescue of amyotrophic lateral sclerosis phenotype in a mouse model.

Published in:

Human Molecular Genetics, 2019, v. 28, n. 19, p. 3175, doi. 10.1093/hmg/ddz118

By:

BK, Binukumar;
Skuntz, Susan;
Prochazkova, Michaela;
Kesavapany, Sashi;
Amin, Niranjana D;
Shukla, Varsha;
Grant, Philip;
Kulkarni, Ashok B;
Pant, Harish C

Publication type:

Article