Search Results - "Brown, Chester W."

Activins and Inhibins: Roles in Development, Physiology, and Disease by Namwanje, Maria, Brown, Chester W

“…Since their original discovery as regulators of follicle-stimulating hormone (FSH) secretion and erythropoiesis, the TGF-β family members activin and inhibin…”
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Macrophage PPARγ, a Lipid Activated Transcription Factor Controls the Growth Factor GDF3 and Skeletal Muscle Regeneration by Varga, Tamas, Mounier, Rémi, Patsalos, Andreas, Gogolák, Péter, Peloquin, Matthew, Horvath, Attila, Pap, Attila, Daniel, Bence, Nagy, Gergely, Pintye, Eva, Poliska, Szilárd, Cuvellier, Sylvain, Ben Larbi, Sabrina, Sansbury, Brian E., Spite, Matthew, Brown, Chester W., Chazaud, Bénédicte, Nagy, Laszlo

“…Tissue regeneration requires inflammatory and reparatory activity of macrophages. Macrophages detect and eliminate the damaged tissue and subsequently promote…”
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Insulin Regulates Lipolysis and Fat Mass by Upregulating Growth/Differentiation Factor 3 in Adipose Tissue Macrophages by Bu, Yun, Okunishi, Katsuhide, Yogosawa, Satomi, Mizuno, Kouichi, Irudayam, Maria Johnson, Brown, Chester W, Izumi, Tetsuro

“…Previous genetic studies in mice have shown that functional loss of activin receptor-like kinase 7 (ALK7), a type I transforming growth factor-β receptor,…”
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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway by Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł

“…Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the…”
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Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features by Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping

“…Bromodomain PHD finger transcription factor (BPTF) is the largest subunit of nucleosome remodeling factor (NURF), a member of the ISWI chromatin-remodeling…”
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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures by Zweier, Markus, Begemann, Anaïs, McWalter, Kirsty, Cho, Megan T, Abela, Lucia, Banka, Siddharth, Behring, Bettina, Berger, Andrea, Brown, Chester W, Carneiro, Maryline, Chen, Jiani, Cooper, Gregory M, Finnila, Candice R, Guillen Sacoto, Maria J, Henderson, Alex, Hüffmeier, Ulrike, Joset, Pascal, Kerr, Bronwyn, Lesca, Gaetan, Leszinski, Gloria S, McDermott, John Henry, Meltzer, Meira R, Monaghan, Kristin G, Mostafavi, Roya, Õunap, Katrin, Plecko, Barbara, Powis, Zöe, Purcarin, Gabriela, Reimand, Tiia, Riedhammer, Korbinian M, Schreiber, John M, Sirsi, Deepa, Wierenga, Klaas J, Wojcik, Monica H, Papuc, Sorina M, Steindl, Katharina, Sticht, Heinrich, Rauch, Anita

“…CYFIP2, encoding the evolutionary highly conserved cytoplasmic FMRP interacting protein 2, has previously been proposed as a candidate gene for intellectual…”
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Phenotypic expansion of POGZ‐related intellectual disability syndrome (White‐Sutton syndrome) by Assia Batzir, Nurit, Posey, Jennifer E., Song, Xiaofei, Akdemir, Zeynep Coban, Rosenfeld, Jill A., Brown, Chester W., Chen, Emily, Holtrop, Shannon G., Mizerik, Elizabeth, Nieto Moreno, Margarita, Payne, Katelyn, Raas‐Rothschild, Annick, Scott, Richard, Vernon, Hilary J., Zadeh, Neda, Lupski, James R., Sutton, V. Reid

“…White‐Sutton syndrome (WHSUS) is a recently‐identified genetic disorder resulting from de novo heterozygous pathogenic variants in POGZ. Thus far, over 50…”
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Absence of Heterozygosity Due to Template Switching during Replicative Rearrangements by Carvalho, Claudia M.B., Pfundt, Rolph, King, Daniel A., Lindsay, Sarah J., Zuccherato, Luciana W., Macville, Merryn V.E., Liu, Pengfei, Johnson, Diana, Stankiewicz, Pawel, Brown, Chester W., Shaw, Chad A., Hurles, Matthew E., Ira, Grzegorz, Hastings, P.J., Brunner, Han G., Lupski, James R.

“…We investigated complex genomic rearrangements (CGRs) consisting of triplication copy-number variants (CNVs) that were accompanied by extended regions of…”
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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome by Lalani, Seema R., Zhang, Jing, Schaaf, Christian P., Brown, Chester W., Magoulas, Pilar, Tsai, Anne Chun-Hui, El-Gharbawy, Areeg, Wierenga, Klaas J., Bartholomew, Dennis, Fong, Chin-To, Barbaro-Dieber, Tina, Kukolich, Mary K., Burrage, Lindsay C., Austin, Elise, Keller, Kory, Pastore, Matthew, Fernandez, Fabio, Lotze, Timothy, Wilfong, Angus, Purcarin, Gabriela, Zhu, Wenmiao, Craigen, William J., McGuire, Marianne, Jain, Mahim, Cooney, Erin, Azamian, Mahshid, Bainbridge, Matthew N., Muzny, Donna M., Boerwinkle, Eric, Person, Richard E., Niu, Zhiyv, Eng, Christine M., Lupski, James R., Gibbs, Richard A., Beaudet, Arthur L., Yang, Yaping, Wang, Meng C., Xia, Fan

“…5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal…”
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Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development by Urban, Zsolt, Hucthagowder, Vishwanathan, Schürmann, Nura, Todorovic, Vesna, Zilberberg, Lior, Choi, Jiwon, Sens, Carla, Brown, Chester W., Clark, Robin D., Holland, Kristen E., Marble, Michael, Sakai, Lynn Y., Dabovic, Branka, Rifkin, Daniel B., Davis, Elaine C.

“…We report recessive mutations in the gene for the latent transforming growth factor-β binding protein 4 (LTBP4) in four unrelated patients with a human…”
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Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes by Carvalho, Claudia M.B., Vasanth, Shivakumar, Shinawi, Marwan, Russell, Chad, Ramocki, Melissa B., Brown, Chester W., Graakjaer, Jesper, Skytte, Anne-Bine, Vianna-Morgante, Angela M., Krepischi, Ana C.V., Patel, Gayle S., Immken, LaDonna, Aleck, Kyrieckos, Lim, Cynthia, Cheung, Sau Wai, Rosenberg, Carla, Katsanis, Nicholas, Lupski, James R.

“…The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech,…”
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Case Report: An Infant With Kabuki Syndrome, Alobar Holoprosencephaly and Truncus Arteriosus: A Case for Whole Exome Sequencing in Neonates With Congenital Anomalies by Sakaria, Rishika P, Zaveri, Parul G, Holtrop, Shannon, Zhang, Jie, Brown, Chester W, Pivnick, Eniko K

“…Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in or . It is characterized by infantile hypotonia, developmental delay and/or…”
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Phenotypic spectrum and genotype―phenotype correlations of NRXN1 exon deletions by SCHAAF, Christian P, BOONE, Philip M, TARTAGLIA, Nicole R, EVANS, Patricia, CAMPBELL, William M, TSAI, Anne Chun-Hui, PARSLEY, Lea, GRAYSON, Stephanie W, SCHEUERLE, Angela, LUZZI, Carol D, THOMAS, Sandra K, ENG, Patricia A, SAMPATH, Srirangan, KANG, Sung-Hae L, PATEL, Ankita, STANKIEWICZ, Pawel, CHEUNG, Sau W, WILLIAMS, Charles, BADER, Patricia I, MUELLER, Jennifer M, SHCHELOCHKOV, Oleg A, BROWN, Chester W, CRAWFORD, Heather P, PHALEN, James A

“…Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and…”
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Intraovarian Activins Are Required for Female Fertility by Pangas, Stephanie A, Jorgez, Carolina J, Tran, Mai, Agno, Julio, Li, Xiaohui, Brown, Chester W, Kumar, T. Rajendra, Matzuk, Martin M

“…Activins have diverse roles in multiple physiological processes including reproduction. Mutations and loss of heterozygosity at the human activin receptor…”
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Emerging Roles for the Transforming Growth Factor-β Superfamily in Regulating Adiposity and Energy Expenditure by Zamani, Nader, Brown, Chester W

“…This review focuses on recent discoveries in the TGF-β field that relate to the control of adipocyte differentiation and function, as well as effects on…”
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Exome Sequencing Reveals a Putative Role for HLA-C03:02 in Control of HIV-1 in African Pediatric Populations by Kyobe, Samuel, Mwesigwa, Savannah, Kisitu, Grace P., Farirai, John, Katagirya, Eric, Mirembe, Angella N., Ketumile, Lesego, Wayengera, Misaki, Katabazi, Fred Ashaba, Kigozi, Edgar, Wampande, Edward M., Retshabile, Gaone, Mlotshwa, Busisiwe C., Williams, Lesedi, Morapedi, Koketso, Kasvosve, Ishmael, Kyosiimire-Lugemwa, Jacqueline, Nsangi, Betty, Tsimako-Johnstone, Masego, Brown, Chester W., Joloba, Moses, Anabwani, Gabriel, Bhekumusa, Lukhele, Mpoloka, Sununguko W., Mardon, Graeme, Matshaba, Mogomotsi, Kekitiinwa, Adeodata, Hanchard, Neil A.

“…Human leucocyte antigen (HLA) class I molecules present endogenously processed antigens to T-cells and have been linked to differences in HIV-1 disease…”
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The Vg1-related protein Gdf3 acts in a Nodal signaling pathway in the pre-gastrulation mouse embryo by Chen, Canhe, Ware, Stephanie M, Sato, Akira, Houston-Hawkins, Dianne E, Habas, Raymond, Matzuk, Martin M, Shen, Michael M, Brown, Chester W

“…The formation of the anterior visceral endoderm (AVE) in the pre-gastrulation mouse embryo represents a crucial event in patterning of the anterior-posterior…”
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Deficiency of Growth Differentiation Factor 3 Protects against Diet-Induced Obesity by Selectively Acting on White Adipose by Shen, Joseph J, Huang, Lihua, Li, Liunan, Jorgez, Carolina, Matzuk, Martin M, Brown, Chester W

“…Growth differentiation factor 3 (GDF3) is a member of the TGFβ superfamily. White adipose is one of the tissues in which Gdf3 is expressed, and it is the only…”
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Activin Signaling: Effects on Body Composition and Mitochondrial Energy Metabolism by Li, Liunan, Shen, Joseph J, Bournat, Juan C, Huang, Lihua, Chattopadhyay, Abanti, Li, Zhihong, Shaw, Chad, Graham, Brett H, Brown, Chester W

“…Activin-βA and activin-βB (encoded by Inhba and Inhbb genes, respectively) are closely related TGF-β superfamily members that participate in a variety of…”
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Inflammasome-driven catecholamine catabolism in macrophages blunts lipolysis during ageing by Camell, Christina D., Sander, Jil, Spadaro, Olga, Lee, Aileen, Nguyen, Kim Y., Wing, Allison, Goldberg, Emily L., Youm, Yun-Hee, Brown, Chester W., Elsworth, John, Rodeheffer, Matthew S., Schultze, Joachim L., Dixit, Vishwa Deep

“…Lipolysis declines with age because NLRP3 inflammasome-activated adipose tissue macrophages reduce levels of noradrenaline by upregulating genes that control…”
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