Works matching IS 09646906 AND DT 2024 AND VI 33

Results: 196

eQTL mapping in transgenic alpha-synuclein carrying Caenorhabditis elegans recombinant inbred lines.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 24, p. 2123, doi. 10.1093/hmg/ddae148

By:

Huang, Yuqing;
Wang, Yiru A;
Sluijs, Lisa van;
Vogels, Demi H J;
Chen, Yuzhi;
Tegelbeckers, Vivian I P;
Schoonderwoerd, Steven;
Riksen, Joost A G;
Kammenga, Jan E;
Harvey, Simon C;
Sterken, Mark G

Publication type:

Article

Increased intrinsic membrane excitability is associated with olivary hypertrophy in spinocerebellar ataxia type 1.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 24, p. 2159, doi. 10.1093/hmg/ddae146

By:

Morrison, Logan M;
Huang, Haoran;
Handler, Hillary P;
Fu, Min;
Jones, Deborah M;
Bushart, David D;
Pappas, Samuel S;
Orr, Harry T;
Shakkottai, Vikram G

Publication type:

Article

Correction to: Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 24, p. 2177, doi. 10.1093/hmg/ddae145
Publication type:: Article

Delivering large genes using adeno-associated virus and the CRE-lox DNA recombination system.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 24, p. 2094, doi. 10.1093/hmg/ddae144

By:

Datta, Poppy;
Rhee, Kun-Do;
Staudt, Rylee J;
Thompson, Jacob M;
Hsu, Ying;
Hassan, Salma;
Drack, Arlene V;
Seo, Seongjin

Publication type:

Article

Identifying X-chromosome variants associated with age-related macular degeneration.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 24, p. 2085, doi. 10.1093/hmg/ddae141

By:

Grunin, Michelle;
Igo Jr, Robert P;
Song, Yeunjoo E;
Blanton, Susan H;
Pericak-Vance, Margaret A;
Haines, Jonathan L;
Consortium, International Age-related Macular Degeneration Genomics

Publication type:

Article

A novel GFAP frameshift variant identified in a family with optico-retinal dysplasia and vision impairment.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 24, p. 2145, doi. 10.1093/hmg/ddae134

By:

Sarusie, Menachem V K;
Rönnbäck, Cecilia;
Jespersgaard, Cathrine;
Baungaard, Sif;
Ali, Yeasmeen;
Kessel, Line;
Christensen, Søren T;
Brøndum-Nielsen, Karen;
Møllgård, Kjeld;
Rosenberg, Thomas;
Larsen, Lars A;
Grønskov, Karen

Publication type:

Article

HDAC1-mediated regulation of KDM1A in pemphigus vulgaris: unlocking mechanisms on ERK pathway activation and cohesion loss.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 24, p. 2133, doi. 10.1093/hmg/ddae090

By:

Luo, Mao;
Jiang, Ziqi;
Wang, Ping;
Chen, Yangmei;
Chen, Aijun;
Wei, Bin

Publication type:

Article

Schizophrenia risk-associated SNPs affect expression of microRNA 137 host gene: a postmortem study.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1939, doi. 10.1093/hmg/ddae130

By:

Feng, Ningping;
Mandal, Ajeet;
Jambhale, Ananya;
Narnur, Pranav;
Chen, Gang;
Akula, Nirmala;
Kramer, Robin;
Kolachana, Bhaskar;
Xu, Qing;
McMahon, Francis J;
Lipska, Barbara K;
Auluck, Pavan K;
Marenco, Stefano

Publication type:

Article

14-3-3 phosphorylation inhibits 14-3-3θ's ability to regulate LRRK2 kinase activity and toxicity.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 23, p. 2071, doi. 10.1093/hmg/ddae142

By:

Pattanayak, Rudradip;
Ekkatine, Roschongporn;
Petit, Chad M;
Yacoubian, Talene A

Publication type:

Article

Deciphering single-cell gene expression variability and its role in drug response.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 23, p. 2024, doi. 10.1093/hmg/ddae138

By:

Liu, Sizhe;
Chen, Liang

Publication type:

Article

Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 23, p. 2003, doi. 10.1093/hmg/ddae136

By:

Gohlke, Jochen;
Lindqvist, Johan;
Hourani, Zaynab;
Heintzman, Sarah;
Tonino, Paola;
Elsheikh, Bakri;
Morales, Ana;
Vatta, Matteo;
Burghes, Arthur;
Granzier, Henk;
Roggenbuck, Jennifer

Publication type:

Article

Investigating MATN3 and ASPN as novel drivers of gastric cancer progression via EMT pathways.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 23, p. 2035, doi. 10.1093/hmg/ddae129

By:

Li, Jing;
Xie, Bo;
Wang, Hu;
Wang, QingKang;
Wu, YongYou

Publication type:

Article

Charis Eng, MD, PhD, 1962-2024, In Memoriam.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1929, doi. 10.1093/hmg/ddae140

By:

Davies, Kay;
Wynshaw-Boris, Anthony

Publication type:

Article

Pathophysiologic abnormalities in transgenic mice carrying the Alzheimer disease PSEN1 Δ440 mutation.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 23, p. 2051, doi. 10.1093/hmg/ddae139

By:

Fuller, Peyton E;
Collis, Victoria L;
Sharma, Pallavi;
Burkett, Angelina M;
Wang, Shaoteng;
Brown, Kyle A;
Weir, Nick;
Goulbourne, Chris N;
Nixon, Ralph A;
Longden, Thomas A;
Gould, Todd D;
Monteiro, Mervyn J

Publication type:

Article

Modeling antisense oligonucleotide therapy in MECP2 duplication syndrome human iPSC-derived neurons reveals gene expression programs responsive to MeCP2 levels.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1986, doi. 10.1093/hmg/ddae135

By:

Bajikar, Sameer S;
Sztainberg, Yehezkel;
Trostle, Alexander J;
Tirumala, Harini P;
Wan, Ying-Wooi;
Harrop, Caroline L;
Bengtsson, Jesse D;
Carvalho, Claudia M B;
Pehlivan, Davut;
Suter, Bernhard;
Neul, Jeffrey L;
Liu, Zhandong;
Jafar-Nejad, Paymaan;
Rigo, Frank;
Zoghbi, Huda Y

Publication type:

Article

Compromised actin dynamics underlie the orofacial cleft in Baraitser-Winter Cerebrofrontofacial syndrome with a variant in ACTB.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1975, doi. 10.1093/hmg/ddae133

By:

Tsujimoto, Takayuki;
Ou, Yushi;
Suzuki, Makoto;
Murata, Yuka;
Inubushi, Toshihiro;
Nagata, Miho;
Ishihara, Yasuki;
Yonei, Ayumi;
Miyashita, Yohei;
Asano, Yoshihiro;
Sakai, Norio;
Sakata, Yasushi;
Ogino, Hajime;
Yamashiro, Takashi;
Kurosaka, Hiroshi

Publication type:

Article

Investigation of the α9-nicotinic receptor single nucleotide polymorphisms induced oncogenic properties and molecular mechanisms in breast cancer.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1948, doi. 10.1093/hmg/ddae132

By:

Liao, You-Cheng;
Wang, Lu-Hai;
Hung, Mien-Chie;
Cheng, Tzu-Chun;
Lin, Ying-Chi;
Chang, Jungshan;
Tu, Shih-Hsin;
Wu, Chih-Hsiung;
Yen, Yun;
Hsieh, Yi-Chen;
Chen, Li-Ching;
Ho, Yuan-Soon

Publication type:

Article

The rs6576457 G > A variant in the MKRN3 gene promoter significantly increases the risk of central precocious puberty and lung cancer in Hubei Chinese population.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1930, doi. 10.1093/hmg/ddae131

By:

Wu, Feng;
Zhou, Weiguang;
Yue, Zhengchu;
Deng, Xiangyuan;
Kang, Wenqiang;
Yu, Zhiyan;
Zhang, Haixia;
Zhang, Bixin;
Feng, Xianhong;
Xiong, Qiantao;
Chen, Bifeng

Publication type:

Article

Small striatal huntingtin inclusions in patients with motor neuron disease with reduced penetrance and intermediate HTT gene expansions.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 22, p. 1966, doi. 10.1093/hmg/ddae137

By:

Roos, Anna-Karin;
Stenvall, Erica;
Kockum, Emmy Skelton;
Grönlund, Kornelia Åman;
Alstermark, Helena;
Wuolikainen, Anna;
Andersen, Peter M;
Nordin, Angelica;
Forsberg, Karin M E

Publication type:

Article

A new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1916, doi. 10.1093/hmg/ddae128

By:

Cavanaugh, Breyanna L;
Milstein, Michelle L;
Boucher, R Casey;
Tan, Sharon X;
Hanna, Mario W;
Seidel, Adam;
Frederiksen, Rikard;
Saunders, Thomas L;
Sampath, Alapakkam P;
Mitton, Kenneth P;
Zhang, Dao-Qi;
Goldberg, Andrew F X

Publication type:

Article

An integrated picture of chronic pancreatitis derived by mapping variants in multiple disease genes onto pathogenic pathways.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1887, doi. 10.1093/hmg/ddae127

By:

Prasad, Hari;
Shah, Idrees A;
Kurien, Reuben Thomas;
Chowdhury, Sudipta Dhar;
Visweswariah, Sandhya S

Publication type:

Article

Expression levels of core spliceosomal proteins modulate the MBNL-mediated spliceopathy in DM1.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1873, doi. 10.1093/hmg/ddae125

By:

Louis, Jiss M;
Frias, Jesus A;
Schroader, Jacob H;
Jones, Lindsey A;
Davey, Emily E;
Lennon, Claudia D;
Chacko, Jacob;
Cleary, John D;
Berglund, J Andrew;
Reddy, Kaalak

Publication type:

Article

Lynch syndrome-associated and sporadic microsatellite unstable colorectal cancers: different patterns of clonal evolution yield highly similar tumours.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1858, doi. 10.1093/hmg/ddae124

By:

Martin, Samantha;
Katainen, Riku;
Taira, Aurora;
Välimäki, Niko;
Ristimäki, Ari;
Seppälä, Toni;
Renkonen-Sinisalo, Laura;
Lepistö, Anna;
Tahkola, Kyösti;
Mattila, Anne;
Koskensalo, Selja;
Mecklin, Jukka-Pekka;
Rajamäki, Kristiina;
Palin, Kimmo;
Aaltonen, Lauri A

Publication type:

Article

Exploring the human genomic landscape: patterns of common homozygosity regions in a large middle eastern cohort.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1908, doi. 10.1093/hmg/ddae123

By:

Sagi-Dain, Lena;
Levy, Michal;
Matar, Reut;
Kahana, Sarit;
Agmon-Fishman, Ifaat;
Klein, Cochava;
Gurevitch, Merav;
Basel-Salmon, Lina;
Maya, Idit

Publication type:

Article

TRIM25 activates Wnt/β-catenin signalling by destabilising MAT2A mRNA to drive thoracic aortic aneurysm development.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1890, doi. 10.1093/hmg/ddae122

By:

Li, Chaojie;
Wang, Kan;
Fang, Jian;
Qin, Lin;
Ling, Qiong;
Yu, Yu

Publication type:

Article

NEK1 haploinsufficiency worsens DNA damage, but not defective ciliogenesis, in C9ORF72 patient-derived iPSC-motoneurons.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1900, doi. 10.1093/hmg/ddae121

By:

Santangelo, Serena;
Invernizzi, Sabrina;
Sorce, Marta Nice;
Casiraghi, Valeria;
Peverelli, Silvia;
Brusati, Alberto;
Colombrita, Claudia;
Ticozzi, Nicola;
Silani, Vincenzo;
Bossolasco, Patrizia;
Ratti, Antonia

Publication type:

Article

Talin-1 variants associated with spontaneous coronary artery dissection (SCAD) highlight how even subtle changes in multi-functional scaffold proteins can manifest in disease.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1846, doi. 10.1093/hmg/ddae120

By:

Azizi, Latifeh;
Otani, Yasumi;
Mykuliak, Vasyl V;
Goult, Benjamin T;
Hytönen, Vesa P;
Turkki, Paula

Publication type:

Article

Testing the PEST hypothesis using relevant Rett mutations in MeCP2 E1 and E2 isoforms.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 21, p. 1833, doi. 10.1093/hmg/ddae119

By:

Kalani, Ladan;
Kim, Bo-Hyun;
Chavez, Alberto Ruiz de;
Roemer, Anastasia;
Mikhailov, Anna;
Merritt, Jonathan K;
Good, Katrina V;
Chow, Robert L;
Delaney, Kerry R;
Hendzel, Michael J;
Zhou, Zhaolan;
Neul, Jeffrey L;
Vincent, John B;
Ausió, Juan

Publication type:

Article

Rescue of Scn5a mis-splicing does not improve the structural and functional heart defects of a DM1 heart mouse model.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 20, p. 1789, doi. 10.1093/hmg/ddae117

By:

Nitschke, Larissa;
Hu, Rong-Chi;
Miller, Andrew N;
Cooper, Thomas A

Publication type:

Article

Clinically relevant mouse models of severe spinal muscular atrophy with respiratory distress type 1.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 20, p. 1800, doi. 10.1093/hmg/ddae116

By:

Holbrook, Sarah E;
Hicks, Amy N;
Martin, Paige B;
Hines, Timothy J;
Castro, Harold P;
Cox, Gregory A

Publication type:

Article

Alzheimer's disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 20, p. 1815, doi. 10.1093/hmg/ddae115

By:

Pavešković, Matea;
De-Paula, Ruth B;
Ojelade, Shamsideen A;
Tantry, Evelyne K;
Kochukov, Mikhail Y;
Bao, Suyang;
Veeraragavan, Surabi;
Garza, Alexandra R;
Srivastava, Snigdha;
Song, Si-Yuan;
Fujita, Masashi;
Duong, Duc M;
Bennett, David A;
Jager, Philip L De;
Seyfried, Nicholas T;
Dickinson, Mary E;
Heaney, Jason D;
Arenkiel, Benjamin R;
Shulman, Joshua M

Publication type:

Article

Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 20, p. 1771, doi. 10.1093/hmg/ddae113

By:

Lin, Yi;
Zhao, Xiangli;
Liou, Benjamin;
Fannin, Venette;
Zhang, Wujuan;
Setchell, Kenneth D R;
Wang, Xiaohong;
Pan, Dao;
Grabowski, Gregory A;
Liu, Chuan-ju;
Sun, Ying

Publication type:

Article

DNA methylation near MAD1L1, KDM2B, and SOCS3 mediates the effect of socioeconomic status on elevated body mass index in African American adults.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 20, p. 1748, doi. 10.1093/hmg/ddae112

By:

Glover, LáShauntá;
Lilly, Adam G;
Justice, Anne E;
Howard, Annie Green;
Staley, Brooke S;
Wang, Yujie;
Kamens, Helen M;
Ferrier, Kendra;
Bressler, Jan;
Loehr, Laura;
Raffield, Laura M;
Sims, Mario;
North, Kari E;
Fernández-Rhodes, Lindsay

Publication type:

Article

ETV4/NSUN2 Axis modulates aerobic glycolysis and malignancy in HSCC.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 20, p. 1729, doi. 10.1093/hmg/ddae106

By:

Ding, Xiaoxu;
Zhang, Xueyan;
Fang, Panxia;
Bai, Weiliang

Publication type:

Article

SIRT1-driven mechanism: sevoflurane's interference with mESC neural differentiation via PRRX1/DRD2 cascade.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 20, p. 1758, doi. 10.1093/hmg/ddae099

By:

Liu, Feifei;
Li, Chenguang

Publication type:

Article

Correction to: The C-terminal extension of dyskerin is a dyskeratosis congenita mutational hotspot that modulates interaction with telomerase RNA and subcellular localization.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 19, p. 1727, doi. 10.1093/hmg/ddae126
Publication type:: Article

Correction to: Psychosocial adversity and socioeconomic position during childhood and epigenetic age: analysis of two prospective cohort studies.

Published in:: Human Molecular Genetics, 2024, v. 33, n. 19, p. 1726, doi. 10.1093/hmg/ddae118
Publication type:: Article

Integration of CTCF loops, methylome, and transcriptome in differentiating LUHMES as a model for imprinting dynamics of the 15q11-q13 locus in human neurons.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1711, doi. 10.1093/hmg/ddae111

By:

Fugón, Orangel J Gutierrez;
Sharifi, Osman;
Heath, Nicholas;
Soto, Daniela C;
Gomez, J Antonio;
Yasui, Dag H;
Mendiola, Aron Judd P;
O'Geen, Henriette;
Beitnere, Ulrika;
Tomkova, Marketa;
Haghani, Viktoria;
Dillon, Greg;
Segal, David J;
LaSalle, Janine M

Publication type:

Article

Plasma proteometabolome in lung cancer: exploring biomarkers through bidirectional Mendelian randomization and colocalization analysis.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1688, doi. 10.1093/hmg/ddae110

By:

Dong, Bo;
Wang, Mengyao;
Li, Kaixiu;
Li, Zuwei;
Liu, Lunxu;
Shen, Shensi

Publication type:

Article

Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1697, doi. 10.1093/hmg/ddae109

By:

Kin, Katherine;
Bhogale, Shounak;
Zhu, Lisha;
Thomas, Derrick;
Bertol, Jessica;
Zheng, W Jim;
Sinha, Saurabh;
Fakhouri, Walid D

Publication type:

Article

Neurodevelopmental disorder-associated CYFIP2 regulates membraneless organelles and eIF2α phosphorylation via protein interactors and actin cytoskeleton.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1671, doi. 10.1093/hmg/ddae107

By:

Zhang, Yinhua;
Kang, Hyae Rim;
Jun, Yukyung;
Kang, Hyojin;
Bang, Geul;
Ma, Ruiying;
Ju, Sungjin;
Yoon, Da Eun;
Kim, Yoonhee;
Kim, Kyoungmi;
Kim, Jin Young;
Han, Kihoon

Publication type:

Article

Exploring the complexity of systemic sclerosis etiology by trio whole genome sequencing.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1643, doi. 10.1093/hmg/ddae105

By:

Dai, Hongzheng;
Ketkar, Shamika;
Tan, Taotao;
Atkinson, Elizabeth G;
Burrage, Lindsay;
Worley, Kim C;
Christopher, Brian;
Lyons, Marka A;
Assassi, Shervin;
Mayes, Maureen D;
Lee, Brendan

Publication type:

Article

Joint models reveal genetic architecture of pubertal stage transitions and their association with BMI in admixed Chilean population.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1660, doi. 10.1093/hmg/ddae098

By:

Vicuña, Lucas;
Barrientos, Esteban;
Leiva-Yamaguchi, Valeria;
Alvares, Danilo;
Mericq, Veronica;
Pereira, Anita;
Eyheramendy, Susana

Publication type:

Article

A novel copy number variant in the murine Cdh23 gene gives rise to profound deafness and vestibular dysfunction.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 19, p. 1648, doi. 10.1093/hmg/ddae095

By:

Boehler, Nicholas A;
Seheult, Shane D I;
Wahid, Muhammad;
Hase, Kazuma;
D'Amico, Sierra F;
Saini, Shakshi;
Mascarenhas, Brittany;
Bergman, Matthew E;
Phillips, Michael A;
Faure, Paul A;
Cheng, Hai-Ying Mary

Publication type:

Article

Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1630, doi. 10.1093/hmg/ddae104

By:

Figuccia, Sonia;
Izzo, Rossella;
Legati, Andrea;
Nasca, Alessia;
Goffrini, Paola;
Ghezzi, Daniele;
Berti, Camilla Ceccatelli

Publication type:

Article

Deletion of Trps1 regulatory elements recapitulates postnatal hip joint abnormalities and growth retardation of Trichorhinophalangeal syndrome in mice.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1618, doi. 10.1093/hmg/ddae102

By:

Saeki, Naoya;
Inui-Yamamoto, Chizuko;
Ikeda, Yuki;
Kanai, Rinna;
Hata, Kenji;
Itoh, Shousaku;
Inubushi, Toshihiro;
Akiyama, Shigehisa;
Ohba, Shinsuke;
Abe, Makoto

Publication type:

Article

Reduced levels of MRE11 cause disease phenotypes distinct from ataxia telangiectasia-like disorder.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1605, doi. 10.1093/hmg/ddae101

By:

Hartlerode, Andrea J;
Mostafa, Ahmed M;
Orban, Steven K;
Benedeck, Rachel;
Campbell, Koral;
Hoenerhoff, Mark J;
Ferguson, David O;
Sekiguchi, JoAnn M

Publication type:

Article

The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1592, doi. 10.1093/hmg/ddae100

By:

Wilson, Patricia G;
Abdelmoti, Lina;
Gao, Tianyan;
Galperin, Emilia

Publication type:

Article

Multi-ancestry polygenic risk scores for venous thromboembolism.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1584, doi. 10.1093/hmg/ddae097

By:

Jee, Yon Ho;
Thibord, Florian;
Dominguez, Alicia;
Sept, Corriene;
Boulier, Kristin;
Venkateswaran, Vidhya;
Ding, Yi;
Cherlin, Tess;
Verma, Shefali Setia;
Faro, Valeria Lo;
Bartz, Traci M;
Boland, Anne;
Brody, Jennifer A;
Deleuze, Jean-Francois;
Emmerich, Joseph;
Germain, Marine;
Johnson, Andrew D;
Kooperberg, Charles;
Morange, Pierre-Emmanuel;
Pankratz, Nathan

Publication type:

Article

The maternal protein NLRP5 stabilizes UHRF1 in the cytoplasm: implication for the pathogenesis of multilocus imprinting disturbance.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 18, p. 1575, doi. 10.1093/hmg/ddae096

By:

Unoki, Motoko;
Uemura, Shuhei;
Fujimoto, Akihiro;
Sasaki, Hiroyuki

Publication type:

Article