Works matching IS 09646906 AND DT 2020 AND VI 29 AND IP 13

Results: 13

Male sterility and reduced female fertility in SCAPER-deficient mice.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2240, doi. 10.1093/hmg/ddaa113

By:

Tatour, Yasmin;
Bar-Joseph, Hadas;
Shalgi, Ruth;
Ben-Yosef, Tamar

Publication type:

Article

Overexpression of Staufen1 in DM1 mouse skeletal muscle exacerbates dystrophic and atrophic features.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2185, doi. 10.1093/hmg/ddaa111

By:

Parks, Tara E Crawford;
Marcellus, Kristen A;
Péladeau, Christine;
Jasmin, Bernard J;
Ravel-Chapuis, Aymeric

Publication type:

Article

An Alu-mediated duplication in NMNAT1, involved in NAD biosynthesis, causes a novel syndrome, SHILCA, affecting multiple tissues and organs.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2250, doi. 10.1093/hmg/ddaa112

By:

Bedoni, Nicola;
Quinodoz, Mathieu;
Pinelli, Michele;
Cappuccio, Gerarda;
Torella, Annalaura;
Nigro, Vincenzo;
Testa, Francesco;
Simonelli, Francesca;
Program), TUDP (Telethon Undiagnosed Disease;
Corton, Marta;
Lualdi, Susanna;
Lanza, Federica;
Morana, Giovanni;
Ayuso, Carmen;
Rocco, Maja Di;
Filocamo, Mirella;
Banfi, Sandro;
Brunetti-Pierri, Nicola;
Superti-Furga, Andrea;
Rivolta, Carlo

Publication type:

Article

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2218, doi. 10.1093/hmg/ddaa108

By:

Slavotinek, Anne;
Misceo, Doriana;
Htun, Stephanie;
Mathisen, Linda;
Frengen, Eirik;
Foreman, Michelle;
Hurtig, Jennifer E;
Enyenihi, Liz;
Sterrett, Maria C;
Leung, Sara W;
Schneidman-Duhovny, Dina;
Estrada-Veras, Juvianee;
Duncan, Jacque L;
Haaxma, Charlotte A;
Kamsteeg, Erik-Jan;
Xia, Vivian;
Beleford, Daniah;
Si, Yue;
Douglas, Ganka;
Treidene, Hans Einar

Publication type:

Article

A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2171, doi. 10.1093/hmg/ddaa107

By:

Stroup, Bridget M;
Marom, Ronit;
Li, Xiaohui;
Hsu, Chih-Wei;
Chang, Cheng-Yen;
Truong, Luan D;
Dawson, Brian;
Grafe, Ingo;
Chen, Yuqing;
Jiang, Ming-Ming;
Lanza, Denise;
Green, Jennie Rose;
Sun, Qin;
Barrish, J P;
Ani, Safa;
Christiansen, Audrey E;
Seavitt, John R;
Dickinson, Mary E;
Kheradmand, Farrah;
Heaney, Jason D

Publication type:

Article

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2200, doi. 10.1093/hmg/ddaa106

By:

Ababneh, Nidaa A;
Scaber, Jakub;
Flynn, Rowan;
Douglas, Andrew;
Barbagallo, Paola;
Candalija, Ana;
Turner, Martin R;
Sims, David;
Dafinca, Ruxandra;
Cowley, Sally A;
Talbot, Kevin

Publication type:

Article

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2109, doi. 10.1093/hmg/ddaa044

By:

Sloan, Jennifer L;
Achilly, Nathan P;
Arnold, Madeline L;
Catlett, Jerrel L;
Blake, Trevor;
Bishop, Kevin;
Jones, Marypat;
Harper, Ursula;
English, Milton A;
Anderson, Stacie;
Trivedi, Niraj S;
Elkahloun, Abdel;
Hoffmann, Victoria;
Brooks, Brian P;
Sood, Raman;
Venditti, Charles P

Publication type:

Article

Laminin-111 protein therapy after disease onset slows muscle disease in a mouse model of laminin-α2 related congenital muscular dystrophy.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2162, doi. 10.1093/hmg/ddaa104

By:

Barraza-Flores, Pamela;
Bukovec, Katherine E;
Dagda, Marisela;
Conner, Brandon W;
Oliveira-Santos, Ariany;
Grange, Robert W;
Burkin, Dean J

Publication type:

Article

Early deficits in olfaction are associated with structural and molecular alterations in the olfactory system of a Huntington disease mouse model.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2134, doi. 10.1093/hmg/ddaa099

By:

Laroche, M;
Lessard-Beaudoin, M;
Garcia-Miralles, M;
Kreidy, C;
Peachey, E;
Leavitt, B R;
Pouladi, M A;
Graham, R K

Publication type:

Article

Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2275, doi. 10.1093/hmg/ddaa083

By:

Lin, Meng;
Caberto, Christian;
Wan, Peggy;
Li, Yuqing;
Lum-Jones, Annette;
Tiirikainen, Maarit;
Pooler, Loreall;
Nakamura, Brooke;
Sheng, Xin;
Porcel, Jacqueline;
Lim, Unhee;
Setiawan, Veronica Wendy;
Marchand, Loïc Le;
Wilkens, Lynne R;
Haiman, Christopher A;
Cheng, Iona;
Chiang, Charleston W K

Publication type:

Article

PAX7 target gene repression associates with FSHD progression and pathology over 1 year.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2124, doi. 10.1093/hmg/ddaa079

By:

Banerji, Christopher R S

Publication type:

Article

Relationship between birth weight and chronic kidney disease: evidence from systematics review and two-sample Mendelian randomization analysis.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2261, doi. 10.1093/hmg/ddaa074

By:

Yu, Xinghao;
Yuan, Zhongshang;
Lu, Haojie;
Gao, Yixin;
Chen, Haimiao;
Shao, Zhonghe;
Yang, Jiaji;
Guan, Fengjun;
Huang, Shuiping;
Zeng, Ping

Publication type:

Article

Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes.

Published in:

Human Molecular Genetics, 2020, v. 29, n. 13, p. 2148, doi. 10.1093/hmg/ddaa100

By:

Bird, Anthony D;
Croft, Brittany M;
Harada, Masayo;
Tang, Lingyun;
Zhao, Liang;
Ming, Zhenhua;
Bagheri-Fam, Stefan;
Koopman, Peter;
Wang, Zhugang;
Akita, Keiichi;
Harley, Vincent R

Publication type:

Article