Zobrazeno 1 - 10
of 46
pro vyhledávání: '"Wendy L. Golden"'
Autor:
Wendy L. Golden, Chelsea Chambers, Lisa Toran, Eli S. Williams, Matthew J. Barrett, Mani S. Mahadevan, Radhika Dhamija
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Mutations in the parkin gene (PRKN) are the most commonly identified genetic factors in early onset Parkinson disease (EOPD), with biallelic mutations, resulting in a clinical phenotype. However, normal variation is also common in PRKN, pa
Autor:
Merlin G. Butler, R. Tanner Hagelstrom, Jay L. Vivian, E. Robert Wassman, Rena Vanzo, Adrianne L. Baxter, Waheeda A. Hossain, Wendy L. Golden
Mowat-Wilson syndrome is a rare genetic condition characterized by intellectual disability, structural anomalies, and dysmorphic features. It is caused by haploinsufficiency of the ZEB2 gene in chromosome 2q22.3. Over 180 distinct mutations in ZEB2 h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f4bdacddcf7766ac696fe07b9f85ed7
https://europepmc.org/articles/PMC5498959/
https://europepmc.org/articles/PMC5498959/
Autor:
Jeffrey Sklar, Mercedeh Movassagh, Fujun Qin, Peng Zhang, Hui Li, Wendy L. Golden, Huiling Yuan, Zhongqiu Xie, Hong Park
Publikováno v:
Cancer Discovery. 3:1394-1403
Gene fusions and their chimeric products are common features of neoplasia. Given that many cancers arise by the dysregulated recapitulation of processes in normal development, we hypothesized that comparable chimeric gene products may exist in normal
Autor:
Robert J. Davidson, Hao Fan, Alexander S. Baras, Dawn C Dirks, Christopher A. Moskaluk, Stefani A Mancuso, Henry F. Frierson, Wendy L. Golden
Publikováno v:
Laboratory investigation; a journal of technical methods and pathology
Adenoid Cystic Carcinoma (ACC) is one of the most common malignancies to arise in human salivary glands, and also arises in glandular tissue of other organ systems. To address the paucity of experimental model systems for this tumor type, we have und
Autor:
M.S. Siadaty, Zhong Wu, Jae K. Lee, Wendy L. Golden, Gregory Riddick, Henry F. Frierson, Garret M. Hampton, Sakari Knuutila, Dan Theodorescu, Wael El-Rifai
Publikováno v:
Neoplasia: An International Journal for Oncology Research, Vol 8, Iss 3, Pp 181-189 (2006)
Expression profiling by DNA microarray analysis has provided insights into molecular alterations that underpin cancer progression and metastasis. Although differential expression of microarray-defined probes can be related to numerical or structural
Publikováno v:
Cancer Genetics. 209:232-233
Autor:
Charles J. Flickinger, Vrinda Khole, Alan B. Diekman, Chi-Yu Gregory Lee, Thomas B. Shows, V.A. Westbrook, Kenneth L. Klotz, Wendy L. Golden, John C. Herr, Roger L. Eddy, C. Von Kap-Herr, Mark H. Stoler
Publikováno v:
Biology of Reproduction. 63:469-481
Formation of mature spermatozoa involves a series of dramatic molecular and morphological changes in the male germ cell lineage. These changes result from the temporally regulated transcription and translation of several testis-specific gene products
Publikováno v:
Clinical Genetics. 26:161-163
Reports of Black females with Prader-Willi have been rare. This communication describes two Black females with Prader-Willi syndrome. Chromosome analysis revealed a small deletion of the proximal portion of a chromosome 15 in one case and apparently
Publikováno v:
American Journal of Clinical Pathology. 108:197-201
Gonadoblastomas are composed of nests of neoplastic germ cells and sex cord derivatives surrounded by ovarian-type stroma. These tumors are found almost exclusively in persons with gonadal dysgenesis associated with a Y chromosome or Y chromosome fra
Autor:
Wendy L. Golden, John C. Herr, Chris von Kap-Herr, Thomas B. Shows, Roger L. Eddy, Cecilia M. Vidaeus
Publikováno v:
Molecular Reproduction and Development. 46:363-369
Fertilin α/β (PH30 α/β) is a heterodimeric sperm surface protein containing binding and fusion domains with potential for interaction with integrin receptors on the oocyte. We report the cDNA cloning, deduced amino acid sequence, tissue specifici