Works matching IS 09646906 AND DT 2021 AND VI 30 AND IP 24

Results: 25

Effective therapeutic strategies in a preclinical mouse model of Charcot–Marie–Tooth disease.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2441, doi. 10.1093/hmg/ddab207

By:

Nuevo-Tapioles, Cristina;
Santacatterina, Fulvio;
Sánchez-Garrido, Brenda;
de Arenas, Cristina Núñez;
Robledo-Bérgamo, Adrián;
Martínez-Valero, Paula;
Cantarero, Lara;
Pardo, Beatriz;
Hoenicka, Janet;
Murphy, Michael P.;
Satrústegui, Jorgina;
Palau, Francesc;
Cuezva, José M.

Publication type:

Article

A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neurons.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2488, doi. 10.1093/hmg/ddab212

By:

Tay, Shermaine Huiping;
Ellieyana, Erna Nur;
Yao Le;
Sarusie, Menachem Viktor;
Grimm, Clemens;
Ohmer, Jürgen;
Mathuru, Ajay S.;
Fischer, Utz;
Winkler, Christoph

Publication type:

Article

Synergistic role of retinoic acid signaling and Gata3 during primitive choanae formation.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2383, doi. 10.1093/hmg/ddab205

By:

Hiroshi Kurosaka;
Jin Mushiake;
Mithun Saha;
Yanran Wu;
Qi Wang;
Masataka Kikuchi;
Akihiro Nakaya;
Sayuri Yamamoto;
Toshihiro Inubushi;
Satoshi Koga;
Sandell, Lisa L.;
Trainor, Paul A.;
Takashi Yamashiro

Publication type:

Article

MiR-200c-based metabolic modulation in glioblastoma cells as a strategy to overcome tumor chemoresistance.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2315, doi. 10.1093/hmg/ddab193

By:

Cardoso, Ana M;
Morais, Catarina M;
Sousa, Madalena;
Rebelo, Olinda;
Tão, Hermínio;
Barbosa, Marcos;
Lima, Maria C Pedroso de;
Jurado, Amália S

Publication type:

Article

Admixture mapping analysis reveals differential genetic ancestry associated with Chagas disease susceptibility in the Colombian population.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2503, doi. 10.1093/hmg/ddab213

By:

Casares-Marfil, Desiré;
Guillen-Guio, Beatriz;
Lorenzo-Salazar, Jose M.;
Rodríguez-Pérez, Héctor;
Kerick, Martin;
Jaimes-Campos, Mayra A.;
Díaz, Martha L.;
Estupiñán, Elkyn;
González, Clara I.;
Martín, Javier;
Flores, Carlos;
Acosta-Herrera, Marialbert

Publication type:

Article

Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2456, doi. 10.1093/hmg/ddab194

By:

Rodriguez-Gil, Jorge L.;
Baxter, Laura L.;
Watkins-Chow, Dawn E.;
Johnson, Nicholas L.;
Davidson, Cristin D.;
Carlson, Steven R.;
Incao, Arturo A.;
Wallom, Kerri L.;
Farhat, Nicole Y.;
Platt, Frances M.;
Dale, Ryan K.;
Porter, Forbes D.;
Pavan, William J.

Publication type:

Article

CORRIGENDUM: MiR-592 activates the mTOR kinase, ERK1/ERK2 kinase signaling and imparts neuronal differentiation. signature characteristic of Group 4 medulloblastoma.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2524, doi. 10.1093/hmg/ddab264

By:

Paul, Raikamal;
Bapat, Purna;
Deogharkar, Akash;
Kazi, Sadaf;
Vishram Singh, Satish Kumar;
Gupta, Tejpal;
Jalali, Rakesh;
Sridhar, Epari;
Moiyadi, Aliasgar;
Shetty, Prakash;
Shirsat, Neelam Vishwanath

Publication type:

Article

Immortalized striatal precursor neurons from Huntington’s disease patient-derived iPS cells as a platform for target identification and screening for experimental therapeutics.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2469, doi. 10.1093/hmg/ddab200

By:

Akimov, Sergey S.;
Mali Jiang;
Kedaigle, Amanda J.;
Arbez, Nicolas;
Marque, Leonard O.;
Eddings, Chelsy R.;
Ranum, Paul T.;
Whelan, Emma;
Tang, Anthony;
Wang, Ronald;
DeVine, Lauren R.;
Talbot Jr., Conover C.;
Cole, Robert N.;
Ratovitski, Tamara;
Davidson, Beverly L.;
Fraenkel, Ernest;
Ross, Christopher A.

Publication type:

Article

WNT2 activation through proximal germline deletion predisposes to small intestinal neuroendocrine tumors and intestinal adenocarcinomas.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2429, doi. 10.1093/hmg/ddab206

By:

Aavikko, Mervi;
Kaasinen, Eevi;
Andersson, Noora;
Pentinmikko, Nalle;
Sulo, Päivi;
Donner, Iikki;
Pihlajamaa, Päivi;
Kuosmanen, Anna;
Bramante, Simona;
Katainen, Riku;
Sipilä, Lauri J.;
Martin, Samantha;
Arola, Johanna;
Carpén, Olli;
Heiskanen, Ilkka;
Mecklin, Jukka-Pekka;
Taipale, Jussi;
Ristimäki, Ari;
Lehti, Kaisa;
Gucciardo, Erika

Publication type:

Article

Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2393, doi. 10.1093/hmg/ddab172

By:

McInerney-Leo, Aideen M.;
Hui Yi Chew;
Inglis, Po-Ling;
Leo, Paul J.;
Joseph, Shannon R.;
Cooper, Caroline L.;
Satomi Okano;
Hassall, Tim;
Anderson, Lisa K.;
Bowman, Rayleen V.;
Gattas, Michael;
Harris, Jessica E.;
Marshall, Mhairi S.;
Shaw, Janet G.;
Wheeler, Lawrie;
Yang, Ian A.;
Brown, Matthew A.;
Fong, Kwun M.;
Simpson, Fiona;
Duncan, Emma L.

Publication type:

Article

Early onset atrial lesions in a patient with a novel LMNA frameshift mutation.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2255, doi. 10.1093/hmg/ddab186

By:

Lin, Yongping;
Liu, Hailei;
Cui, Chang;
Lin, Zhiqiao;
Zhang, Yike;
Zhu, Yue;
Ju, Weizhu;
Chen, Minglong

Publication type:

Article

Higher adiposity and mental health: causal inference using Mendelian randomization.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2371, doi. 10.1093/hmg/ddab204

By:

Casanova, Francesco;
O’Loughlin, Jessica;
Martin, Susan;
Beaumont, Robin N.;
Wood, Andrew R.;
Watkins, Edward R.;
Freathy, Rachel M.;
Hagenaars, Saskia P.;
Frayling, Timothy M.;
Yaghootkar, Hanieh;
Tyrrell, Jess

Publication type:

Article

Loss of Zic3 impairs planar cell polarity leading to abnormal left–right signaling, heart defects and neural tube defects.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2402, doi. 10.1093/hmg/ddab195

By:

Bellchambers, Helen M.;
Ware, Stephanie M.

Publication type:

Article

MiR-592 activates the mTOR kinase, ERK1/ERK2 kinase signaling and imparts neuronal differentiation signature characteristic of Group 4 medulloblastoma.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2416, doi. 10.1093/hmg/ddab201

By:

Paul, Raikamal;
Bapat, Purna;
Deogharkar, Akash;
Kazi, Sadaf;
Vishram Singh, Satish Kumar;
Gupta, Tejpal;
Jalali, Rakesh;
Sridhar, Epari;
Moiyadi, Aliasgar;
Shetty, Prakash;
Shirsat, Neelam Vishwanath

Publication type:

Article

Cardiomyocyte-produced miR-339-5p mediates pathology in Duchenne muscular dystrophy cardiomyopathy.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2347, doi. 10.1093/hmg/ddab199

By:

Gartz, Melanie;
Beatka, Margaret;
Prom, Mariah J;
Strande, Jennifer L;
Lawlor, Michael W

Publication type:

Article

Genomic and pleiotropic analyses of resting QT interval identifies novel loci and overlap with atrial electrical disorders.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2513, doi. 10.1093/hmg/ddab197

By:

van Duijvenboden, Stefan;
Ramírez, Julia;
Young, William J.;
Orini, Michele;
Mifsud, Borbala;
Tinker, Andrew;
Lambiase, Pier D.;
Munroe, Patricia B.

Publication type:

Article

Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2362, doi. 10.1093/hmg/ddab202

By:

Lin, Eugene;
Tsai, Shih-Jen;
Kuo, Po-Hsiu;
Liu, Yu-Li;
Yang, Albert C;
Conomos, Matthew P;
Thornton, Timothy A

Publication type:

Article

SWI/SNF complex regulates the expression of miR-222, a tumor suppressor microRNA in lung adenocarcinoma.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2263, doi. 10.1093/hmg/ddab187

By:

Peinado, Paola;
Andrades, Alvaro;
Martorell-Marugán, Jordi;
Haswell, Jeffrey R;
Slack, Frank J;
Carmona-Sáez, Pedro;
Medina, Pedro P

Publication type:

Article

Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2286, doi. 10.1093/hmg/ddab190

By:

Burger, Joyce;
Bogunovic, Natalija;
Wagenaar, Nathalie P de;
Liu, Hui;
Vliet, Nicole van;
IJpma, Arne;
Maugeri, Alessandra;
Micha, Dimitra;
Verhagen, Hence J M;
Hagen, Timo L M ten;
Majoor-Krakauer, Danielle;
van der Pluijm, Ingrid;
Essers, Jeroen;
Yeung, Kak K

Publication type:

Article

New insights into the evolution of human Y chromosome palindromes through mutation and gene conversion.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2272, doi. 10.1093/hmg/ddab189

By:

Bonito, Maria;
D'Atanasio, Eugenia;
Ravasini, Francesco;
Cariati, Selene;
Finocchio, Andrea;
Novelletto, Andrea;
Trombetta, Beniamino;
Cruciani, Fulvio

Publication type:

Article

CHARGE syndrome and related disorders: a mechanistic link.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2215, doi. 10.1093/hmg/ddab183

By:

Ufartes, Roser;
Grün, Regina;
Salinas, Gabriela;
Sitte, Maren;
Kahl, Fritz;
Wong, Monica T Y;
Ravenswaaij-Arts, Conny M A van;
Pauli, Silke

Publication type:

Article

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2300, doi. 10.1093/hmg/ddab192

By:

Zhang, Yongqiang;
Tachtsidis, Georgios;
Schob, Claudia;
Koko, Mahmoud;
Hedrich, Ulrike B S;
Lerche, Holger;
Lemke, Johannes R;
Haeringen, Arie van;
Ruivenkamp, Claudia;
Prescott, Trine;
Tveten, Kristian;
Gerstner, Thorsten;
Pruniski, Brianna;
DiTroia, Stephanie;
VanNoy, Grace E;
Rehm, Heidi L;
McLaughlin, Heather;
Bolz, Hanno J;
Zechner, Ulrich;
Bryant, Emily

Publication type:

Article

Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2332, doi. 10.1093/hmg/ddab188

By:

Kim, Tae-Eun;
Newman, Andrew J;
Imberdis, Thibaut;
Brontesi, Lisa;
Tripathi, Arati;
Ramalingam, Nagendran;
Fanning, Saranna;
Selkoe, Dennis;
Dettmer, Ulf

Publication type:

Article

CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2240, doi. 10.1093/hmg/ddab185

By:

Wang, Weili;
Tian, Shixong;
Nie, Hongchuan;
Tu, Chaofeng;
Liu, Chunyu;
Li, Yong;
Li, Dongyan;
Yang, Xiaoxuan;
Meng, Lanlan;
Hu, Tongyao;
Zhang, Qianjun;
Du, Juan;
Fan, Liqing;
Lu, Guangxiu;
Lin, Ge;
Zhang, Feng;
Tan, Yue-Qiu

Publication type:

Article

Identifying oligodendrocyte enhancers governing Plp1 expression.

Published in:

Human Molecular Genetics, 2021, v. 30, n. 24, p. 2225, doi. 10.1093/hmg/ddab184

By:

Kim, Dongkyeong;
An, Hongjoo;
Fan, Chuandong;
Park, Yungki

Publication type:

Article