Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

Authors: Thorpe, Holly J. ¹, Pedersen, Brent S. ¹, Dietze, Miranda ², Link, Nichole ², Quinlan, Aaron R. ¹, Bonkowsky, Joshua L. ^{3, 4}, Thomas, Ashley ⁵, Chow, Clement Y. ^{1, ∗}

Source: In The American Journal of Human Genetics 6 March 2025 112(3):572-582

PIAS1 S510G variant acts as a genetic modifier of spinocerebellar ataxia type 3 by selectively impairing mutant ataxin-3 proteostasis

Authors: Chang, Yi-Ching ^a, Tsai, Yao-Chou ^a, Chang, En-Cheng ^a, Hsu, Yu-Chien ^a, Huang, Yi-Ru ^a, Lee, Yan-Hua ^{b, c}, Tsai, Yu-Shuen ^d, Chen, Yin-Quan ^d, Lee, Yi-Chung ^{e, f}, Liao, Yi-Chu ^e, Kuo, Jean-Cheng ^{a, d}, Su, Ming-Tsan ^g, Yang, Ueng-Cheng ^{h, 1}, Chern, Yijuang ^{b, c, 1}, Cheng, Tzu-Hao ^{a, f, ⁎}

Source: In International Journal of Biochemistry and Cell Biology November 2024 176

Genetic modifiers of body mass index in individuals with cystic fibrosis

Authors: Aksit, Melis A., Bamshad, Michael J., Blackman, Scott M., Blue, Elizabeth, Buckingham, Kati, Chong, Jessica X., Collaco, J. Michael, Cutting, Garry R., Dang, Hong, Eastman, Alice, Faino, Anna, Gallins, Paul J., Gibson, Ronald, Godwin, Beth, Gordon, William W., Hetrick, Kurt, Huang, Le, Knowles, Michael R., Lam, Anh-Thu N., Ling, Hua, Liu, Weifang, Li, Yun, Onchiri, Frankline, O'Neal, Wanda K., Pace, Rhonda G., Pagel, Kymberleigh, Porter, Mark, Pugh, Elizabeth, Raraigh, Karen S., Mikeasky, Rebekah, Rosenfeld, Margaret, Rosen, Jonathan, Stilp, Adrienne, Stonebraker, Jaclyn R., Sun, Quan, Wen, Jia, Wright, Fred A., Yang, Yingxi, Zhang, Peng, Zhou, Yi-Hui, Pugh, Elizabeth W. ¹, Faino, Anna V. ⁴, Gibson, Ronald L. ^{8, 9}, O’Neal, Wanda ³

Source: In The American Journal of Human Genetics 3 October 2024 111(10):2203-2218

A dual sgRNA library design to probe genetic modifiers using genome-wide CRISPRi screens

Authors: Alina Guna, Katharine R. Page, Joseph M. Replogle, Theodore K. Esantsi, Maxine L. Wang, Jonathan S. Weissman, Rebecca M. Voorhees

Source: BMC Genomics, Vol 24, Iss 1, Pp 1-13 (2023)

Subject Terms: CRISPR interference, Genetic modifier, Epistasis, Genome-wide screen, ER membrane protein complex, Tail-anchored proteins, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/595c5032f9dd4a8ca48b4d5775c55fa0

Expanding the genotype–phenotype correlations in Alport syndrome: novel mutations, digenic inheritance, and genetic modifiers

Authors: Ibrahim Sahin, Nefise Kandemir, Hanife Saat

Source: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-7 (2023)

Subject Terms: Alport syndrome, COL4A3, COL4A4, COL4A5, Digenic, Genetic modifier, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/2090-2441

Access URL: https://doaj.org/article/7af97a29acb04391b2599069def5f740

The BALB/c.mdx62 mouse exhibits a dystrophic muscle pathology and is a model of Duchenne muscular dystrophy

Authors: Kristy Swiderski, Audrey S. Chan, Marco J. Herold, Andrew J. Kueh, Jin D. Chung, Justin P. Hardee, Jennifer Trieu, Annabel Chee, Timur Naim, Paul Gregorevic, Gordon S. Lynch

Source: Disease Models & Mechanisms, Vol 17, Iss 4 (2024)

Subject Terms: muscular dystrophy, skeletal muscle, bone, pathophysiology, preclinical, genetic modifier, Medicine, Pathology, RB1-214

File Description: electronic resource

Relation: http://dmm.biologists.org/content/17/4/dmm050502; https://doaj.org/toc/1754-8403; https://doaj.org/toc/1754-8411

Access URL: https://doaj.org/article/0b8d5a9dc15b471b9c11baee9e4ca30c

APOL1 Genotyping Is Incomplete without Testing for the Protective M1 Modifier p.N264K Variant

Authors: Rasheed Gbadegesin, Elena Martinelli, Yask Gupta, David J. Friedman, Matthew G. Sampson, Martin R. Pollak, Simone Sanna-Cherchi

Source: Glomerular Diseases, Pp 1-1 (2024)

Subject Terms: apol1, genetic modifier, focal segmental glomerulosclerosis, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://beta.karger.com/Article/FullText/537948; https://doaj.org/toc/2673-3633

Access URL: https://doaj.org/article/dd831a1b969e4e1db739ae72e4490e11

Balancing WNT signalling in early forebrain development: The role of LRP4 as a modulator of LRP6 function

Authors: Shuang Geng, Fabian Paul, Izabela Kowalczyk, Sandra Raimundo, Anje Sporbert, Tamrat Meshka Mamo, Annette Hammes

Source: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

Subject Terms: LRP4, forebrain, development, WNT pathway, genetic modifier, LRP6, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1173688/full; https://doaj.org/toc/2296-634X

Access URL: https://doaj.org/article/25ae0a0861c940ef8683fe4fea9e0e64

Genetic mapping of novel modifiers for Apc Min induced intestinal polyps’ development using the genetic architecture power of the collaborative cross mice

Authors: Alexandra Dorman, Ilona Binenbaum, Hanifa J. Abu-Toamih Atamni, Aristotelis Chatziioannou, Ian Tomlinson, Richard Mott, Fuad A. Iraqi

Source: BMC Genomics, Vol 22, Iss 1, Pp 1-18 (2021)

Subject Terms: Apc Min, Colorectal cancer, Collaborative cross, Familial adenomatous polyposis, Genetic modifier, Moms, Biotechnology, TP248.13-248.65, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2164

Access URL: https://doaj.org/article/b81d6b2b52404974967629e9b9d9a2b9

Combinatorial ASO-mediated therapy with low dose SMN and the protective modifier Chp1 is not sufficient to ameliorate SMA pathology hallmarks

Authors: A. Muinos-Bühl, R. Rombo, E. Janzen, K.K. Ling, K. Hupperich, F. Rigo, C.F. Bennett, B. Wirth

Source: Neurobiology of Disease, Vol 171, Iss , Pp 105795- (2022)

Subject Terms: Neuromuscular disorder, CHP1, SMA, SMN2, Antisense oligonucleotide, Genetic modifier, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996122001875; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/46eef705687a44878e797d11075621eb

Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (NaV1.5)

Authors: Monica Lopes-Marques, Raquel Silva, Catarina Serrano, Verónica Gomes, Ana Cardoso, Maria João Prata, Antonio Amorim, Luisa Azevedo

Source: PeerJ, Vol 10, p e13913 (2022)

Subject Terms: Sodium voltage-gated channel alpha subunit 5 (NaV1.5), SCN5A variants, Genetic background, Linkage disequilibrium, Genetic modifier, Epistasis, Medicine, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://peerj.com/articles/13913.pdf; https://peerj.com/articles/13913/; https://doaj.org/toc/2167-8359

Access URL: https://doaj.org/article/f89c4b59619145ec8c285dd3e8a6c8b4

Editorial: Acquired and Inherited Cardiac Arrhythmias

Authors: Yael Ben-Haim, Ofer Binah, José Jalife

Source: Frontiers in Physiology, Vol 13 (2022)

Subject Terms: human pluripotent stem cell derived cardiomyocytes, genetic modifier, long QT syndrome, safety pharmacology, computational models, atrial fibrilation, Physiology, QP1-981

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2022.947103/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/bcfd5da39476413d879573c8dd644014

Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing

Authors: Mafalda Raposo, Conceição Bettencourt, Ana Rosa Vieira Melo, Ana F. Ferreira, Isabel Alonso, Paulo Silva, João Vasconcelos, Teresa Kay, Maria Luiza Saraiva-Pereira, Marta D. Costa, Daniela Vilasboas-Campos, Bruno Filipe Bettencourt, Jácome Bruges-Armas, Henry Houlden, Peter Heutink, Laura Bannach Jardim, Jorge Sequeiros, Patrícia Maciel, Manuela Lima

Source: Neurobiology of Disease, Vol 162, Iss , Pp 105578- (2022)

Subject Terms: MJD, SCA3, Spinocerebellar ataxia, Polyglutamine disease, Age at onset, Genetic modifier, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996121003272; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/092ddc3822fc493ea73849aef1ba8fc6

One PMP22/MPZ and Three MFN2/GDAP1 Concomitant Variants Occurred in a Cohort of 189 Chinese Charcot-Marie-Tooth Families

Authors: Yongzhi Xie, Zhiqiang Lin, Xiaobo Li, Lei Liu, Shunxiang Huang, Huadong Zhao, Binghao Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang

Source: Frontiers in Neurology, Vol 12 (2022)

Subject Terms: Charcot-Marie-Tooth diseases, concomitant variants, intrafamilial clinical heterogeneity, double trouble, genetic modifier, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.736704/full; https://doaj.org/toc/1664-2295

Access URL: https://doaj.org/article/aa5c69cef05a458f8f17f0fe2139b7af

Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy

Authors: Wenxi Yu, Megan K. Mulligan, Robert W. Williams, Miriam H. Meisler

Source: HGG Advances, Vol 3, Iss 1, Pp 100064- (2022)

Subject Terms: Scn8a, Gabra2, epilepsy, epileptic encephalopathy, genetic modifier, voltage-gated sodium channel, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000452; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/8a7008e3fe9542ceb4f3e110f42a7bd9

Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity

Authors: Benjamin J. Landis, Dongbing Lai, Dong-Chuan Guo, Joel S. Corvera, Muhammad T. Idrees, Henry W. Stadler, Christian Cuevas, Gavin U. Needler, Courtney E. Vujakovich, Dianna M. Milewicz, Robert B. Hinton, Stephanie M. Ware

Source: HGG Advances, Vol 3, Iss 1, Pp 100057- (2022)

Subject Terms: thoracic aortic aneurysm, aortic dissection, Marfan syndrome, bicuspid aortic valve, genetic modifier, coenzyme Q, Genetics, QH426-470

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2666247721000385; https://doaj.org/toc/2666-2477

Access URL: https://doaj.org/article/60059b4211c04ccaaf92dff1bc736065

The Linkage Phase of the Polymorphism KCNH2-K897T Influences the Electrophysiological Phenotype in hiPSC Models of LQT2

Authors: Lettine van den Brink, Karina O. Brandão, Loukia Yiangou, Albert Blanch-Asensio, Mervyn P. H. Mol, Christine L. Mummery, Arie O. Verkerk, Richard P. Davis

Source: Frontiers in Physiology, Vol 12 (2021)

Subject Terms: long QT syndrome type 2, disease modeling, human pluripotent stem cell-derived cardiomyocytes, isogenic, genetic modifier, cardiac electrophysiology, Physiology, QP1-981

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphys.2021.755642/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/b3ab6f47f3f748f3a3df91203bd31a56

Heterozygous Cystic Fibrosis Transmembrane Regulator Gene Missense Variants Are Associated With Worse Cardiac Function in Patients With Duchenne Muscular Dystrophy

Authors: Xuan Jiang, Yanqiu Shao, Faris G. Araj, Alpesh A. Amin, Benjamin M. Greenberg, Mark H. Drazner, Chao Xing, Pradeep P. A. Mammen

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 9, Iss 19 (2020)

Subject Terms: Duchene muscular dystrophy–associated cardiomyopathy, genetic modifier, whole exome sequencing, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/8aa8b168092a4349a5297712b3bc66fd

Increased Glutathione S-Transferase Activity Rescues Dopaminergic Neuron Loss in a Drosophila Model of Parkinson's Disease

Authors: Whitworth, Alexander J., Theodore, Dorothy A., Greene, Jessica C., Beneš, Helen, Wes, Paul D., Pallanck, Leo J., Palmiter, Richard D.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2005 May . 102(22), 8024-8029.

Access URL: https://www.jstor.org/stable/3375712

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy

Authors: Vieira, Natassia M., Spinazzola, Janelle M., Alexander, Matthew S., Moreira, Yuri B., Kawahara, Genri, Gibbs, Devin E., Mead, Lillian C., Verjovski-Almeida, Sergio, Zatz, Mayana, Kunkel, Louis M.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2017 Jun 01. 114(23), 6080-6085.

Access URL: https://www.jstor.org/stable/26484145