Human Genetics | Michigan Medicine | University of Michigan

Time 2020-07-13 17:05:00

Web Name: Human Genetics | Michigan Medicine | University of Michigan

WebSite: http://www.hg.med.umich.edu

ID:24406

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Michigan,Genetics,Human,

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June 22, 2020 Congratulations to Sue Hammoud on the SSR Virendra B. Mahesh New Investigator Award! The Black Medical Association (BMA) of @UMichMedAdmiss asked the Michigan Medicine community to stand in solidarity with the May 14, 2020 Miriam Meisler Lab s Mouse Model Provides Breakthrough for Potential New Treatment of Rare Childhood Epilepsy Please join us in celebrating all that Genetic Counselors do! Genetic Counselor Awareness Day is November 14, 2019. CIDO, a Community-Based Ontology for Coronavirus Disease Knowledge and Data Integration, Sharing, and Analysis He Y, Yu H, Ong E, Wang Y, Liu Y, Huffman A, Huang HH, Beverley J, Hur J, Yang X, Chen L, Omenn GS, Athey B, Smith B. CIDO, a community-based ontology for coronavirus disease knowledge and data integration, sharing, and analysis. Sci Data. 2020 Jun 12;7(1):181. doi: 10.1038/s41597-020-0523-6. PMID: 32533075; PMCID: PMC7293349. Mutually Suppressive Roles of KMT2A and KDM5C in Behaviour, Neuronal Structure, and Histone H3K4 Methylation Vallianatos CN, Raines B, Porter RS, Bonefas KM, Wu MC, Garay PM, Collette KM, Seo YA, Dou Y, Keegan CE, Tronson NC, Iwase S. Mutually suppressive roles of KMT2A and KDM5C in behaviour, neuronal structure, and histone H3K4 methylation. Commun Biol. 2020 Jun 1;3(1):278. doi: 10.1038/s42003-020-1001-6. Erratum in: Commun Biol. 2020 Jun 22;3(1):331. PMID: 32483278; PMCID: PMC7264178. Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis Shami AN, Zheng X, Munyoki SK, Ma Q, Manske GL, Green CD, Sukhwani M, Orwig KE, Li JZ, Hammoud SS. Single-Cell RNA Sequencing of Human, Macaque, and Mouse Testes Uncovers Conserved and Divergent Features of Mammalian Spermatogenesis. Dev Cell. 2020 Jun 5:S1534-5807(20)30399-3. doi: 10.1016/j.devcel.2020.05.010. Epub ahead of print. PMID: 32504559. Moon SL, Morisaki T, Stasevich TJ, Parker R. Coupling of translation quality control and mRNA targeting to stress granules. J Cell Biol. 2020 Aug 3;219(8):e202004120. doi: 10.1083/jcb.202004120. PMID: 32520986. Whole Exome Sequencing Identifies Rare Variants in STAB2 Associated With Venous Thromboembolic Disease Desch K, Ozel AB, Halvorsen M, Jacobi PM, Golden KL, Underwood MI, Germain M, Trégouët DA, Reitsma PH, Kearon C, Mokry L, Richards B, Williams F, Li J, Goldstein DB, Ginsburg D. Whole exome sequencing identifies rare variants in STAB2 associated with venous thromboembolic disease. Blood. 2020 May 26:blood.2019004161. doi: 10.1182/blood.2019004161. Epub ahead of print. PMID:32457982. Brinkmeier ML, Bando H, Camarano AC, Fujio S, Yoshimoto K, de Souza FSJ, Camper SA. Rathke's cleft-like cysts arise from Isl1 deletion in murine pituitary progenitors. J Clin Invest. 2020 May 26:136745. doi: 10.1172/JCI136745. Epub ahead of print. PMID: 32453714. The Human DNA Mismatch Repair Protein MSH3 Contains Nuclear Localization and Export Signals That Enable Nuclear-Cytosolic Shuttling in Response to Inflammation Tseng-Rogenski SS, Munakata K, Choi DY, Martin PK, Mehta S, Koi M, Zheng W, Zhang Y, Carethers JM. The Human DNA Mismatch Repair Protein MSH3 Contains Nuclear Localization and Export Signals That Enable Nuclear-Cytosolic Shuttling in Response to Inflammation. Mol Cell Biol. 2020 Jun 15;40(13):e00029-20. doi: 10.1128/MCB.00029-20. PMID: 32284349. Genomic Structure, Evolutionary Origins, and Reproductive Function of a Large Amplified Intrinsically Disordered Protein-Coding Gene on the X Chromosome ( Laidx) in Mice Arlt MF, Brogley MA, Stark-Dykema ER, Hu YC, Mueller JL. Genomic Structure, Evolutionary Origins, and Reproductive Function of a Large Amplified Intrinsically Disordered Protein-Coding Gene on the X Chromosome ( i Laidx /i ) in Mice. G3 (Bethesda). 2020 Jun 1;10(6):1997-2005. doi: 10.1534/g3.120.401221. PMID: 32253194; PMCID: PMC7263670. Office Hours: Mon - Fri: 8:00AM - 5:00PM Appointments: Adult Clinic (734) 763-2532 / Peds Clinics (734) 764-0579

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Department of Human Genetics Mission Statement The Department of Human Genetics at the University of Michigan Medical School is devoted to advancing the fields of genetics and genomics to further our understanding of biology and human disease. This mission is accomplished by: (1) generating knowledge through our research programs; and (2) providing mentored training in

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