Works matching IS 09646906 AND DT 2024 AND VI 33

Results: 196
    1
    2

    PSMC5 insufficiency and P320R mutation impair proteasome function.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 17, p. 1506, doi. 10.1093/hmg/ddae085
    By:
    • Yu, Zhong-Qiu;
    • Carmichael, Jenny;
    • Collins, Galen A;
    • D'Agostino, Maria Daniela;
    • Lessard, Mathieu;
    • Firth, Helen V;
    • Harijan, Pooja;
    • Fry, Andrew E;
    • Dean, John;
    • Zhang, Jiuchun;
    • Kini, Usha;
    • Goldberg, Alfred L;
    • Rubinsztein, David C
    Publication type:
    Article
    3
    4
    5
    6
    7
    8

    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
    9
    10
    11
    12
    13
    14
    15

    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
    16
    17
    18

    Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 16, p. 1429, doi. 10.1093/hmg/ddae050
    By:
    • Jiang, Min-Zhi;
    • Gaynor, Sheila M;
    • Li, Xihao;
    • Buren, Eric Van;
    • Stilp, Adrienne;
    • Buth, Erin;
    • Wang, Fei Fei;
    • Manansala, Regina;
    • Gogarten, Stephanie M;
    • Li, Zilin;
    • Polfus, Linda M;
    • Salimi, Shabnam;
    • Bis, Joshua C;
    • Pankratz, Nathan;
    • Yanek, Lisa R;
    • Durda, Peter;
    • Tracy, Russell P;
    • Rich, Stephen S;
    • Rotter, Jerome I;
    • Mitchell, Braxton D
    Publication type:
    Article
    19
    20
    21
    22
    23
    24
    25
    26

    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
    27
    28

    Extended haplotype with rs41524547-G defines the ancestral origin of SCA10.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 18, p. 1567, doi. 10.1093/hmg/ddae092
    By:
    • McFarland, Karen N;
    • Tiwari, Anjana;
    • Hashem, Vera;
    • Zhang, Linwei;
    • Zeng, Desmond;
    • Vincent, Justin;
    • Arredondo, Maria J;
    • Johnson, Kristy L;
    • Gan, Shi Rui;
    • Yabe, Ichiro;
    • Skov, Laurits;
    • Rasmussen, Astrid;
    • Ashizawa, Tetsuo
    Publication type:
    Article
    29
    30

    Single nuclei RNA-seq reveals a medium spiny neuron glutamate excitotoxicity signature prior to the onset of neuronal death in an ovine Huntington's disease model.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 17, p. 1524, doi. 10.1093/hmg/ddae087
    By:
    • Jiang, Andrew;
    • You, Linya;
    • Handley, Renee R;
    • Hawkins, Victoria;
    • Reid, Suzanne J;
    • Jacobsen, Jessie C;
    • Patassini, Stefano;
    • Rudiger, Skye R;
    • Mclaughlan, Clive J;
    • Kelly, Jennifer M;
    • Verma, Paul J;
    • Bawden, C Simon;
    • Gusella, James F;
    • MacDonald, Marcy E;
    • Waldvogel, Henry J;
    • Faull, Richard L M;
    • Lehnert, Klaus;
    • Snell, Russell G
    Publication type:
    Article
    31
    32
    33
    34
    35
    36
    37
    38
    39
    40
    41
    42
    43
    44
    45
    46
    47
    48

    Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.

    Published in:
    Human Molecular Genetics, 2024, v. 33, n. 12, p. 1090, doi. 10.1093/hmg/ddae044
    By:
    • Wagenaar, Nathalie P de;
    • Bersselaar, Lisa M van den;
    • Odijk, Hanny J H M;
    • Stefens, Sanne J M;
    • Reinhardt, Dieter P;
    • Roos-Hesselink, Jolien W;
    • Kanaar, Roland;
    • Verhagen, Judith M A;
    • Brüggenwirth, Hennie T;
    • Laar, Ingrid M B H van de;
    • van der Pluijm, Ingrid;
    • Essers, Jeroen
    Publication type:
    Article
    49
    50