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

Results: 25

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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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