Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Erasmo M. Perera"'
Autor:
Gary D. Berkovitz, Howard Martin, Tossaporn Seeherunvong, L. Kos, J. R. Hawkins, Ieuan A. Hughes, Erasmo M. Perera
Publikováno v:
Endocrinology. 142:455-463
To identify genes that are differentially expressed in the developing testis we used representational difference analysis of complementary DNA from gonads of mouse embryos at 13.5 days postcoitum (dpc). Three genes were identified. One of them was a
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 83:4079-4083
Homozygous or compound heterozygous mutations in the GH receptor (GHR) gene result in GH insensitivity syndrome. Previous reports have shown that some heterozygous mutations may induce a partial insensitivity to GH, but others appear to have limited
Autor:
M. Eidson, J. Day, Erasmo M. Perera, S. Stein, R. Bartlett, Lisa Baumbach, Milton R. Brown, William W. Cleveland, John S. Parks, Adam Schiavi
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 82:444-451
We have characterized the GH receptor mutation that is responsible for extreme short stature and GH insensitivity in a Bahamian genetic isolate. Heights of affected individuals ranged from −4.0 to −6.3 sd. Like others with Laron’s syndrome, the
Autor:
Erasmo M. Perera, Gary D. Berkovitz, Tossaporn Seeherunvong, Supamit Ukarapong, Ken McElreavey
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 25(1-2)
BACKGROUND Translocation of the SRY gene to the paternal X chromosome is the explanation for testis development in the majority of subjects with 46,XX testicular disorder of sexual development (DSD). However, nearly all subjects with 46,XX ovotesticu
Autor:
Gary D. Berkovitz, Erasmo M. Perera, Janine Sanchez, Anna Dang, Changlin Ding, Michael A. Levine, Suzanne M. Jan de Beur
Pseudohypoparathyroidism (PHP) types 1a and 1b are distinguished by clinical, biochemical, and molecular features. We report extended kindred with PHP 1b in which many affected members also had growth plate defects, including brachydactyly and a Made
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70a2bb97a1cd3d394dabe24e68fa539d
https://europepmc.org/articles/PMC3167675/
https://europepmc.org/articles/PMC3167675/
Publikováno v:
Gene. 464(1-2)
Tescalcin, an EF-hand calcium binding protein that regulates the Na+/H+ exchanger 1 (NHE1), is highly expressed in various mouse tissues such as heart and brain. Despite its potentially important role in cell physiology, the mechanisms that regulate
Autor:
Craig A. Smith, Gary D. Berkovitz, Quanah J. Hudson, Andrew H. Sinclair, Stuart A. Tobet, Erasmo M. Perera, Leonardo Akan, Yong Bao
Publikováno v:
Gene expression patterns : GEP. 9(5)
The tescalcin gene (Tesc) encodes an EF-hand calcium-binding protein that interacts with the sodium/hydrogen exchanger, NHE1. Previous studies indicated that Tesc was expressed in mouse embryonic testis, but not in ovary, during the critical period o
Autor:
Roger P. Donahue, Yong Bao, Erasmo M. Perera, Adelaida Benigno, Gary D. Berkovitz, Tossaporn Seeherunvong, Paul J. Benke
Publikováno v:
American journal of medical genetics. Part A. (2)
We present a case of 46,XX sex reversal in the absence of SRY but with partial duplication of chromosome 22q. The subject had multiple congenital anomalies but nearly complete masculinization of the external genitalia. Our case along with a previous
Autor:
You-Me Kim, Erasmo M. Perera, Gary D. Berkovitz, Aldrin V. Gomes, Vladlen Z. Slepak, Konstantin Levay, Christina Gutierrez-Ford, Jeffrey L. Benovic, Tapan Som
Publikováno v:
Biochemistry. 42(49)
The tescalcin gene is preferentially expressed during mouse testis differentiation. Here, we demonstrate that this gene encodes a 24 kDa Ca(2+)- and Mg(2+)-binding protein with one consensus EF-hand and three additional domains with EF-hand homology.
Autor:
Dawn E. Watkins-Chow, Amy Saldana-Caboverde, Nisc Comparative Sequencing Program, Nancy F. Hansen, Erasmo M. Perera, William J. Pavan, Meghana Vemulapalli, James C. Mullikin, Lidia Kos
Publikováno v:
Developmental Biology. (2):300-312
Melanocytes, the pigment-producing cells, arise from multipotent neural crest (NC) cells during embryogenesis. Many genes required for melanocyte development were identified using mouse pigmentation mutants. The variable spotting mouse pigmentation m