Highlighted Publications - April 2025

Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics:

• Evolutionary and Population Genetics
• Genome Structure and Function
• Molecular Basis of Mendelian Disorders
• Complex Traits and Diseases
• Developmental Genetics

Michigan Experts is a searchable database of research expertise across disciplines from several schools/colleges or institutes at the University of Michigan. Please explore The Department of Human Genetics' research profile and collaboration network on the Michigan Experts website.

PubMed® comprises more than 37 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full text content from PubMed Central and publisher web sites. 

Myelin regulatory factor (MYRF) is a critical early regulator of retinal pigment epithelial development

Brinkmeier ML, Wang SQ, Pittman HA, Cheung LY, Prasov L. Myelin regulatory factor (MYRF) is a critical early regulator of retinal pigment epithelial development. PLoS Genet. 2025 Apr 15;21(4):e1011670. doi: 10.1371/journal.pgen.1011670. Epub ahead of print. PMID: 40233131.

https://pubmed.ncbi.nlm.nih.gov/40233131/

Collaborators:

• Michelle Brinkmeier
• Lev Prasov

Peripartum dapagliflozin improves late-life maternal cardiovascular outcomes in a murine model of superimposed preeclampsia

Hesson AM, Sangtani A, Bergin I, Langen E, Hunker K, Kumar N, Ganesh SK. Peripartum dapagliflozin improves late life maternal cardiovascular outcomes in a mouse model of superimposed preeclampsia. Am J Obstet Gynecol. 2025 Mar 29:S0002-9378(25)00181-4. doi: 10.1016/j.ajog.2025.03.035. Epub ahead of print. PMID: 40164294.

https://pubmed.ncbi.nlm.nih.gov/40164294/

Collaborators:

• Santhi K Ganesh

Loss of factor VIII in zebrafish rebalances antithrombin deficiency but has a limited bleeding diathesis

Azhwar R, Richter CE, Griffin MS, Emly SM, Yaman M, Arruda VR, Samelson-Jones BJ, Shavit JA. Loss of factor VIII in zebrafish rebalances antithrombin deficiency but has a limited bleeding diathesis. Blood Adv. 2025 Mar 14:bloodadvances. 2024013143. doi: 10.1182/bloodadvances.2024013143. Epub ahead of print. PMID: 40085950.

https://pubmed.ncbi.nlm.nih.gov/40085950/

Collaborators:

• Jordan Shavit

Role of PROP1 in postnatal pituitary gland maturation

Winningham AH, Rhoads EC, Brinkmeier ML, Vishnopolska SA, Kitzman JO, Camper SA, Pérez Millán MI. Endocrinology. 2025 Mar6:bqaf047. doi: 10.1210/endocr/bqaf047. Online ahead of print. PMID: 40048699.

https://pubmed.ncbi.nlm.nih.gov/40048699/

Collaborators:

• Michelle Brinkmeier
• Sebastian Vishnopolska
• Jacob Kitzman
• Sally A Camper

MELK as a Mediator of Stemness and Metastasis in Aggressive Subtypes of Breast Cancer

McBean B, Abou Zeidane R, Lichtman-Mikol S, Hauk B, Speers J, Tidmore S, Flores CL, Rana PS, Pisano C, Liu M, Santola A, Montero A, Boyle AP, Speers CW. MELK as a Mediator of Stemness and Metastasis in Aggressive Subtypes of Breast Cancer. Int J Mol Sci. 2025 Mar 3;26(5):2245. doi: 10.3390/ijms26052245. PMID: 40076867; PMCID: PMC11900306.

https://pubmed.ncbi.nlm.nih.gov/40076867/

Collaborators:

• Breanna McBean
• Alan P Boyle

High-throughput amino acid-level characterization of the interactions of plasminogen activator inhibitor-1 with variably divergent proteases

Doctrove Q, Park Y, Calame DG, Kitzman J, Lenk GM, Meisler MH. Protein family FAM241 in human and mouse. Mamm Genome. 2024 Dec 23. doi:0.1007/s00335-024-10096-7. Epub ahead of print. PMID: 39715844.

https://pubmed.ncbi.nlm.nih.gov/39715844/

Collaborators:

• Miriam H Meisler
• Young Nam Park
• Jacob Kitzman
• Guy M Lenk

Cell-free DNA from Aqueous and Dilute Vitreous Improves Detection of Vitreoretinal Lymphoma

Brown NA, Balikov DA, Boyer D, Betz BL, Behdad A, Sassalos TM, Demirci H, Rao RC. Cell-free DNA from Aqueous and Dilute Vitreous Improves Detection of Vitreoretinal Lymphoma. Ophthalmol Retina. 2025 Apr;9(4):402-404. doi: 10.1016/j.oret.2024.12.010. Epub 2024 Dec 12. PMID: 39672304.

https://pubmed.ncbi.nlm.nih.gov/39672304/

Collaborators:

• Rajesh Rao

Germline mutations in PPP2R1B in patients with a personal and family history of cancer

Mazhar S, O'Connor CM, Harold A, Dowdican AC, Ulintz PJ, Hanson EN, Zhang Y, Jacobs MF, Merajver SD, Jackson MW, Scott A, Sieuwerts AM, Chinnaiyan AM, Narla G. Germline loss-of-function mutations in PPP2R1B in patients with a personal and family history of cancer. JCI Insight. 2025 Apr 3:e186288. doi: 10.1172/jci.insight.186288. Epub ahead of print. PMID: 40178903.

https://pubmed.ncbi.nlm.nih.gov/40178903/

Collaborators:

• Goutham Narla

SOX9 suppresses colon cancer via inhibiting epithelial-mesenchymal transition and SOX2 induction

Feng Y, Zhu N, Bedi K, Li J, Perera C, Green M, Assarzadegan N, Zhai Y, Liu Q, Baladandayuthapani V, Spence JR, Cho KR, Fearon ER. SOX9 suppresses colon cancer via inhibiting epithelial-mesenchymal transition and SOX2 induction. J Clin Invest. 2025 Apr 3:e184115. doi: 10.1172/JCI184115. Epub ahead of print.b PMID: 40179020.

https://pubmed.ncbi.nlm.nih.gov/40179020/

Collaborators:

• Eric R Fearon

Nucleoredoxin regulates WNT signaling during pituitary stem cell differentiation

Brinkmeier ML, Cheung LYM, O'Connell SP, Gutierrez DK, Rhoads EC, Camper SA, Davis SW. Hum Mol Genet. 2025 Mar 5:ddaf032. doi: 10.1093/hmg/ddaf032.Online ahead of print. PMID: 40044116.

https://pubmed.ncbi.nlm.nih.gov/40044116/

Collaborators:

• Michelle Brinkmeier

• Sally A Camper

   

Please explore the Department of Human Genetics' publications on the PubMed Central website.