Genetics, Cell Biology and Development (TMED)

2023

AAV-mediated gene transfer to colon-innervating primary afferent neurons

Gore, R., Esmail, T., Pflepsen, K., Marron Fernandez de Velasco, E., Kitto, K. F., Riedl, M. S., Karlen, A., McIvor, R. S., Honda, C. N., Fairbanks, C. A. & Vulchanova, L., 2023, In: Frontiers in pain research (Lausanne, Switzerland). 4, 1225246.

Research output: Contribution to journal › Article › peer-review

Open Access

Autophagy impairment and lifespan reduction caused by Atg1 RNAi or Atg18 RNAi expression in adult fruit flies (Drosophila melanogaster)

Bierlein, M., Charles, J., Polisuk-Balfour, T., Bretscher, H., Rice, M., Zvonar, J., Pohl, D., Winslow, L., Wasie, B., Deurloo, S., Van Wert, J., Williams, B., Ankney, G., Harmon, Z., Dann, E., Azuz, A., Guzman-Vargas, A., Kuhns, E., Neufeld, T. P., O'Connor, M. B., & 2 othersAmissah, F. & Zhu, C. C., Oct 2023, In: Genetics. 225, 2, iyad154.

Research output: Contribution to journal › Article › peer-review

Cross-disciplinary collaboration for supervisor training: reaping the benefits of a relationship-based approach

Morales, M., Redlinger-Grosse, K. & MacFarlane, I. M., 2023, In: Clinical Supervisor. 42, 1, p. 26-44 19 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Generation and characterization of an immunodeficient mouse model of mucopolysaccharidosis type II

Smith, M. C., Belur, L. R., Karlen, A. D., Podetz-Pedersen, K., Erlanson, O., Laoharawee, K., Furcich, J., Lund, T. C., You, Y., Seelig, D., Webber, B. R. & McIvor, R. S., Apr 2023, In: Molecular Genetics and Metabolism. 138, 4, 107539.

Research output: Contribution to journal › Article › peer-review

Genetic counselors' response types to prenatal patient deferring or attributing religious/spiritual statements: An exploratory study of US genetic counselors

Sitaula, A., Veach, P. M. C., MacFarlane, I. M., Lee, W. & Redlinger-Grosse, K., Feb 2023, In: Journal of Genetic Counseling. 32, 1, p. 197-212 16 p.

Research output: Contribution to journal › Article › peer-review

Open Access

In vivo imaging reveals independent intraflagellar transport of the nexin-dynein regulatory complex subunits DRC2 and DRC4

Saravanan, S., Trischler, D., Bower, R., Porter, M. & Lechtreck, K., Feb 1 2023, In: Molecular biology of the cell. 34, 2

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Long-term reversal of chronic pain behavior in rodents through elevation of spinal agmatine

Peterson, C. D., Waataja, J. J., Kitto, K. F., Erb, S. J., Verma, H., Schuster, D., Churchill, C. C., Riedl, M. S., Belur, L. R., Wolf, D. A., McIvor, R. S., Vulchanova, L., Wilcox, G. L. & Fairbanks, C. A., Apr 5 2023, In: Molecular Therapy. 31, 4, p. 1123-1135 13 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Mass Cytometry reveals unique phenotypic patterns associated with subclonal diversity and outcomes in multiple myeloma

Baughn, L. B., Jessen, E., Sharma, N., Tang, H., Smadbeck, J. B., Long, M. D., Pearce, K., Smith, M., Dasari, S., Sachs, Z., Linden, M. A., Cook, J., Keith Stewart, A., Chesi, M., Mitra, A., Leif Bergsagel, P., Van Ness, B. & Kumar, S. K., Dec 2023, In: Blood cancer journal. 13, 1, 84.

Research output: Contribution to journal › Article › peer-review

Open Access

Methylated histones on mitotic chromosomes promote topoisomerase IIα function for high fidelity chromosome segregation

Sundararajan, S., Park, H., Kawano, S., Johansson, M. R., Lama, B., Saito-Fujita, T., Saitoh, N., Arnaoutov, A., Dasso, M., Wang, Z., Keifenheim, D., Clarke, D. J. & Azuma, Y., May 19 2023, In: iScience. 26, 5, 106743.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

Mitotic DNA Synthesis in Untransformed Human Cells Preserves Common Fragile Site Stability via a FANCD2-Driven Mechanism That Requires HELQ

Traband, E. L., Hammerlund, S. R., Shameem, M., Narayan, A., Ramana, S., Tella, A., Sobeck, A. & Shima, N., Nov 15 2023, In: Journal of Molecular Biology. 435, 22, 168294.

Research output: Contribution to journal › Article › peer-review

Open Access

Neurologic Recovery in MPS i and MPS II Mice by AAV9-Mediated Gene Transfer to the CNS after the Development of Cognitive Dysfunction

Podetz-Pedersen, K. M., Laoharawee, K., Singh, S., Nguyen, T. T., Smith, M. C., Temme, A., Kozarsky, K., McIvor, R. S. & Belur, L. R., Jan 1 2023, In: Human gene therapy. 34, 1-2, p. 8-18 11 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Organelle interactions compartmentalize hepatic fatty acid trafficking and metabolism

Najt, C. P., Adhikari, S., Heden, T. D., Cui, W., Gansemer, E. R., Rauckhorst, A. J., Markowski, T. W., Higgins, L. A., Kerr, E. W., Boyum, M. D., Alvarez, J., Brunko, S., Mehra, D., Puchner, E. M., Taylor, E. B. & Mashek, D. G., May 30 2023, In: Cell reports. 42, 5, 112435.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Promoting the integration of genetic counseling education and research across the spectrum of learners at a large academic institution

MacFarlane, I. M. & Zierhut, H., 2023, (Accepted/In press) In: Journal of Genetic Counseling.

Research output: Contribution to journal › Article › peer-review

Open Access

Region-specific reversal of epidermal planar polarity in the rosette fancy mouse

Cetera, M., Sharan, R., Hayward-Lara, G., Phillips, B., Biswas, A., Halley, M., Beall, E., vonHoldt, B. & Devenport, D., Sep 2023, In: Development (Cambridge). 150, 17, dev202078.

Research output: Contribution to journal › Article › peer-review

Open Access

Robust microtubule dynamics facilitate low-tension kinetochore detachment in metaphase

Parmar, S., Gonzalez, S. J., Heckel, J. M., Mukherjee, S., McClellan, M., Clarke, D. J., Johansson, M., Tank, D., Geisness, A., Wood, D. K. & Gardner, M. K., Aug 7 2023, In: Journal of Cell Biology. 222, 8, e202202085.

Research output: Contribution to journal › Article › peer-review

Open Access

1 Scopus citations

T7Max transcription system

Deich, C., Cash, B., Sato, W., Sharon, J., Aufdembrink, L., Gaut, N. J., Heili, J., Stokes, K., Engelhart, A. E. & Adamala, K. P., Dec 2023, In: Journal of Biological Engineering. 17, 1, 4.

Research output: Contribution to journal › Article › peer-review

Open Access

5 Scopus citations

The SR protein RSP-2 influences expression of the truncated insulin receptor DAF-2B in Caenorhabditis elegans

Martinez, B. A. & Gill, M. S., Jun 2023, In: G3: Genes, Genomes, Genetics. 13, 6, jkad064.

Research output: Contribution to journal › Article › peer-review

Open Access

Trumpet is an operating system for simple and robust cell-free biocomputing

Sharon, J. A., Dasrath, C., Fujiwara, A., Snyder, A., Blank, M., O’Brien, S., Aufdembrink, L. M., Engelhart, A. E. & Adamala, K. P., Dec 2023, In: Nature communications. 14, 1, 2257.

Research output: Contribution to journal › Article › peer-review

Open Access

Understanding Adoption as a Reproductive Justice Issue

Wexler, J. H., Cai, J., McKee, K. D., Blankenau, A., Lee, H., Kim, O. M., Kim, A. Y. & Lee, R. M., Dec 2023, In: Psychology of Women Quarterly. 47, 4, p. 510-527 18 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

2022

Allosteric HSP70 inhibitors perturb mitochondrial proteostasis and overcome proteasome inhibitor resistance in multiple myeloma

Ferguson, I. D., Lin, Y. H. T., Lam, C., Shao, H., Tharp, K. M., Hale, M., Kasap, C., Mariano, M. C., Kishishita, A., Patiño Escobar, B., Mandal, K., Steri, V., Wang, D., Phojanakong, P., Tuomivaara, S. T., Hann, B., Driessen, C., Van Ness, B., Gestwicki, J. E. & Wiita, A. P., Aug 18 2022, In: Cell Chemical Biology. 29, 8, p. 1288-1302.e7

Research output: Contribution to journal › Article › peer-review

Open Access

10 Scopus citations

A role for the Erk MAPK pathway in modulating SAX-7/L1CAM-dependent locomotion in Caenorhabditis elegans

Moseley-Alldredge, M., Sheoran, S., Yoo, H., O'Keefe, C., Richmond, J. E. & Chen, L., Feb 2022, In: Genetics. 220, 2, iyab215.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

BCOR and BCORL1 Mutations Drive Epigenetic Reprogramming and Oncogenic Signaling by Unlinking PRC1.1 from Target Genes

Schaefer, E. J., Wang, H. C., Karp, H. Q., Meyer, C. A., Cejas, P., Gearhart, M. D., Adelman, E. R., Fares, I., Apffel, A., Lim, K., Xie, Y., Gibson, C. J., Schenone, M., Murdock, H. M., Wang, E. S., Gondek, L. P., Carroll, M. P., Vedula, R. S., Winer, E. S., Garcia, J. S., & 7 othersStone, R. M., Luskin, M. R., Carr, S. A., Long, H. W., Bardwell, V. J., Figueroa, M. E. & Lindsley, R. C., Mar 1 2022, In: Blood cancer discovery. 3, 2, p. 116-135 20 p.

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

Chick cranial neural crest cells release extracellular vesicles that are critical for their migration

Gustafson, C. M., Roffers-Agarwal, J. & Gammill, L. S., Jun 2022, In: Journal of cell science. 135, 12

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

Contribution of the innate and adaptive immune systems to aortic dilation in murine mucopolysaccharidosis type I

Braunlin, E., Abrahante, J. E., Mc Elmurry, R. T., Evans, M. D., Smith, M., Seelig, D., O'Sullivan, G., Tolar, J., Whitley, C. B. & McIvor, R. S., Mar 2022, In: Molecular Genetics and Metabolism. 135, 3, p. 193-205 13 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Correction of Fanconi Anemia Mutations Using Digital Genome Engineering

Sipe, C. J., Kluesner, M. G., Bingea, S. P., Lahr, W. S., Andrew, A. A., Wang, M., DeFeo, A. P., Hinkel, T. L., Laoharawee, K., Wagner, J. E., MacMillan, M. L., Vercellotti, G. M., Tolar, J., Osborn, M. J., McIvor, R. S., Webber, B. R. & Moriarity, B. S., Aug 2022, In: International journal of molecular sciences. 23, 15, 8416.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Epigenetics, DNA damage, and aging

Soto-Palma, C., Niedernhofer, L. J., Faulk, C. D. & Dong, X., Aug 15 2022, In: Journal of Clinical Investigation. 132, 16, e158446.

Research output: Contribution to journal › Article › peer-review

Open Access

20 Scopus citations

Etv2 regulates enhancer chromatin status to initiate Shh expression in the limb bud

Koyano-Nakagawa, N., Gong, W., Das, S., Theisen, J., Swanholm, T. B., Ly, D. V., Dsouza, N., Singh, B. N., Kawakami, H., Young, S., Chen, K. Q., Kawakami, Y. & Garry, D. J., Dec 2022, In: Nature communications. 13, 1, 4221.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Experiences of United States genetic counseling supervisors regarding race/ethnicity in supervision: A qualitative investigation

Dewey, C., McCarthy Veach, P., LeRoy, B. S. & Redlinger-Grosse, K., Apr 2022, In: Journal of Genetic Counseling. 31, 2, p. 510-522 13 p.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Genomics of sexual cell fate transdifferentiation in the mouse gonad

Murphy, M. W., Gearhart, M. D., Wheeler, A. L., Bardwell, V. J. & Zarkower, D. A., Dec 2022, In: G3: Genes, Genomes, Genetics. 12, 12, jkac267.

Research output: Contribution to journal › Article › peer-review

Open Access

Innexin function dictates the spatial relationship between distal somatic cells in the Caenorhabditis elegans gonad without impacting the germline stem cell pool

Tolkin, T., Mohammad, A., Starich, T. A., Nguyen, K. C. Q., Hall, D. H., Schedl, T., Jane Albert Hubbard, E. & Greenstein, D., Sep 2022, In: eLife. 11, e74955.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Internal checkpoint regulates T cell neoantigen reactivity and susceptibility to PD1 blockade

Palmer, D. C., Webber, B. R., Patel, Y., Johnson, M. J., Kariya, C. M., Lahr, W. S., Parkhurst, M. R., Gartner, J. J., Prickett, T. D., Lowery, F. J., Kishton, R. J., Gurusamy, D., Franco, Z., Vodnala, S. K., Diers, M. D., Wolf, N. K., Slipek, N. J., McKenna, D. H., Sumstad, D., Viney, L., & 18 othersHenley, T., Bürckstümmer, T., Baker, O., Hu, Y., Yan, C., Meerzaman, D., Padhan, K., Lo, W., Malekzadeh, P., Jia, L., Deniger, D. C., Patel, S. J., Robbins, P. F., McIvor, R. S., Choudhry, M., Rosenberg, S. A., Moriarity, B. S. & Restifo, N. P., Oct 14 2022, In: Med. 3, 10, p. 682-704.e8

Research output: Contribution to journal › Article › peer-review

Open Access

11 Scopus citations

Lentiviral Gene Therapy for Artemis-Deficient SCID

Cowan, M. J., Yu, J., Facchino, J., Fraser-Browne, C., Sanford, U., Kawahara, M., Dara, J., Long-Boyle, J., Oh, J., Chan, W., Chag, S., Broderick, L., Chellapandian, D., Decaluwe, H., Golski, C., Hu, D., Kuo, C. Y., Miller, H. K., Petrovic, A., Currier, R., & 6 othersHilton, J. F., Punwani, D., Dvorak, C. C., Malech, H. L., Mcivor, R. S. & Puck, J. M., Dec 22 2022, In: New England Journal of Medicine. 387, 25, p. 2344-2355 12 p.

Research output: Contribution to journal › Article › peer-review

Open Access

16 Scopus citations

Loss of function mutations of BCOR in classical Hodgkin lymphoma

Giefing, M., Gearhart, M. D., Schneider, M., Overbeck, B., Klapper, W., Hartmann, S., Ustaszewski, A., Weniger, M. A., Wiehle, L., Hansmann, M. L., Melnick, A., Béguelin, W., Sundström, C., Küppers, R., Bardwell, V. J. & Siebert, R., 2022, In: Leukemia and Lymphoma. 63, 5, p. 1080-1090 11 p.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Lrh1 can help reprogram sexual cell fate and is required for Sertoli cell development and spermatogenesis in the mouse testis

Agrimson, K. S., Minkina, A., Sadowski, D., Wheeler, A., Murphy, M. W., Gearhart, M. D., Bardwell, V. J. & Zarkower, D., Feb 22 2022, In: PLoS genetics. 18, 2, e1010088.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Multiomics analysis reveals that hepatocyte nuclear factor 1β regulates axon guidance genes in the developing mouse kidney

Shao, A., Gearhart, M. D., Chan, S. C., Miao, Z., Susztak, K. & Igarashi, P., Dec 2022, In: Scientific reports. 12, 1, 17586.

Research output: Contribution to journal › Article › peer-review

Open Access

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

Langouët, M., Jolicoeur, C., Javed, A., Mattar, P., Gearhart, M. D., Daiger, S. P., Bertelsen, M., Tranebjærg, L., Rendtorff, N. D., Grønskov, K., Jespersgaard, C., Chen, R., Sun, Z., Li, H., Alirezaie, N., Majewski, J., Bardwell, V. J., Sui, R., Koenekoop, R. K. & Cayouette, M., Sep 9 2022, In: Science Advances. 8, 36, eabh2868.

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

NIH SenNet Consortium to map senescent cells throughout the human lifespan to understand physiological health

Stanford TDA, University of Connecticut TMC, University of Michigan TDA, University of Minnesota TMC, University of Pittsburgh TMC, University of Washington TDA, Washington University TMC, Yale TMC, SenNet Consortium, Writing group, Brown University TDA, Buck Institute for Research on Aging TMC/TDA, Consortium Organization and Data Coordinating Center (CODCC), Columbia TMC, Duke University TMC, Massachusetts General Hospital TDA, Mayo Clinic TDA & National Institute of Health (NIH), Dec 2022, In: Nature Aging. 2, 12, p. 1090-1100 11 p.

Research output: Contribution to journal › Article › peer-review

Open Access

12 Scopus citations

Normal embryonic development and neonatal digit regeneration in mice overexpressing a stem cell factor, Sall4

Chen, K. Q., Anderson, A., Kawakami, H., Kim, J., Barrett, J. & Kawakami, Y., Apr 2022, In: PloS one. 17, 4 April, e0267273.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Phenotypic Correction of Murine Mucopolysaccharidosis Type II by Engraftment of Ex Vivo Lentiviral Vector-Transduced Hematopoietic Stem and Progenitor Cells

Smith, M. C., Belur, L. R., Karlen, A. D., Erlanson, O., Podetz-Pedersen, K. M., McKenzie, J., Detellis, J., Gagnidze, K., Parsons, G., Robinson, N., Labarre, S., Shah, S., Furcich, J., Lund, T. C., Tsai, H. C., McIvor, R. S. & Bonner, M., Dec 1 2022, In: Human gene therapy. 33, 23-24, p. 1279-1292 14 p.

Research output: Contribution to journal › Article › peer-review

Open Access

6 Scopus citations

Preparation and Morphological Analysis of Chick Cranial Neural Crest Cell Cultures

Jacques-Fricke, B. T., Roffers-Agarwal, J., Gustafson, C. M. & Gammill, L. S., Jun 2022, In: Journal of Visualized Experiments. 2022, 184, e63799.

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Reevaluation of the role of LIP-1 as an ERK/MPK-1 dual specificity phosphatase in the C. elegans germline

Das, D., Seemann, J., Greenstein, D., Schedl, T. & Arur, S., Jan 18 2022, In: Proceedings of the National Academy of Sciences of the United States of America. 119, 3, e2113649119.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Regulation of stem cell identity by miR-200a during spinal cord regeneration

Walker, S. E., Sabin, K. Z., Gearhart, M. D., Yamamoto, K. & Echeverri, K., Feb 2022, In: Development (Cambridge). 149, 3, dev200033.

Research output: Contribution to journal › Article › peer-review

Open Access

8 Scopus citations

secDrug: a pipeline to discover novel drug combinations to kill drug-resistant multiple myeloma cells using a greedy set cover algorithm and single-cell multi-omics

Kumar, H., Mazumder, S., Chakravarti, S., Sharma, N., Mukherjee, U. K., Kumar, S., Baughn, L. B., Van Ness, B. G. & Mitra, A. K., Mar 2022, In: Blood cancer journal. 12, 3, 39.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Single-cell analysis of somatic mutations in human bronchial epithelial cells in relation to aging and smoking

Huang, Z., Sun, S., Lee, M., Maslov, A. Y., Shi, M., Waldman, S., Marsh, A., Siddiqui, T., Dong, X., Peter, Y., Sadoughi, A., Shah, C., Ye, K., Spivack, S. D. & Vijg, J., Apr 2022, In: Nature Genetics. 54, 4, p. 492-498 7 p.

Research output: Contribution to journal › Article › peer-review

28 Scopus citations

Single-Cell Proteomics and Tumor RNAseq Identify Novel Pathways Associated With Clofazimine Sensitivity in PI- and IMiD- Resistant Myeloma, and Putative Stem-Like Cells

Kumar, H., Mazumder, S., Sharma, N., Chakravarti, S., Long, M. D., Meurice, N., Petit, J., Liu, S., Chesi, M., Sanyal, S., Stewart, A. K., Kumar, S., Bergsagel, L., Rajkumar, S. V., Baughn, L. B., Van Ness, B. G. & Mitra, A. K., May 11 2022, In: Frontiers in Oncology. 12, 842200.

Research output: Contribution to journal › Article › peer-review

Open Access

3 Scopus citations

Single-molecule, quantitative detection of low-abundance somatic mutations by high-throughput sequencing

Maslov, A. Y., Makhortov, S., Sun, S., Heid, J., Dong, X., Lee, M. & Vijg, J., Apr 2022, In: Science Advances. 8, 14, abm3259.

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

Small hairpin inhibitory RNA delivery in the metanephric organ culture identifies long noncoding RNA Pvt1 as a modulator of cyst growth

Eckberg, K., Weisser, I., Buttram, D., Somia, N., Igarashi, P. & Aboudehen, K. S., Sep 2022, In: American Journal of Physiology - Renal Physiology. 323, 3, p. F335-F348

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

SomaMutDB: A database of somatic mutations in normal human tissues

Sun, S., Wang, Y., Maslov, A. Y., Dong, X. & Vijg, J., Jan 7 2022, In: Nucleic acids research. 50, D1, p. D1100-D1108

Research output: Contribution to journal › Article › peer-review

Open Access

13 Scopus citations

Structural studies of SALL family protein zinc finger cluster domains in complex with DNA reveal preferential binding to an AATA tetranucleotide motif

Ru, W., Koga, T., Wang, X., Guo, Q., Gearhart, M. D., Zhao, S., Murphy, M., Kawakami, H., Corcoran, D., Zhang, J., Zhu, Z., Yao, X., Kawakami, Y. & Xu, C., Dec 2022, In: Journal of Biological Chemistry. 298, 12, 102607.

Research output: Contribution to journal › Article › peer-review

Open Access

4 Scopus citations

Systemic lipolysis promotes physiological fitness in Drosophila melanogaster

Shang, L., Aughey, E., Kim, H., Heden, T. D., Wang, L., Najt, C. P., Esch, N., Brunko, S., Abrahante, J. E., Macchietto, M., Mashek, M. T., Fairbanks, T., Promislow, D. E. L., Neufeld, T. P. & Mashek, D. G., 2022, In: Aging. 14, 16, p. 6481-6506 26 p.

Research output: Contribution to journal › Article › peer-review

Open Access

2 Scopus citations

Genetics, Cell Biology and Development (TMED)

Research output

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