Výsledky vyhledávání - "SOX2 disorder"

Review

Autor: Williamson KA; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom, Yates TM; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom, FitzPatrick DR; Consultant in Pediatric Genetics, MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom

Publikováno v: 1993.

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SOX2 is essential for astrocyte maturation and its deletion leads to hyperactive behavior in mice

Autor: Yan Wang, Sheng Zhang, Zhaohui Lan, Vui Doan, Bokyung Kim, Sihan Liu, Meina Zhu, Vanessa L. Hull, Sami Rihani, Chun-Li Zhang, John A. Gray, Fuzheng Guo

Publikováno v: Cell reports, vol 41, iss 12

Children with SOX2 deficiency develop ocular disorders and extra-ocular CNS anomalies. Animal data show that SOX2 is essential for retinal and neural stem cell development. In the CNS parenchyma, SOX2 is primarily expressed in astroglial and oligoden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b415b3bd2db944d5f99dde8eef2e391
https://escholarship.org/uc/item/2c74n4x4

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Akademický článek

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Akademický článek

SOX2 pathogenic variants with normal eyes: Expanding the phenotypic spectrum.

Autor: Okoye, Onochie, Capasso, Jenina, Kopinsky, Sarina M., Amlie‐Wolf, Louise, Levin, Alex V., Schneider, Adele

Publikováno v: American Journal of Medical Genetics. Part A; Aug2023, Vol. 191 Issue 8, p2198-2203, 6p

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Diagnostic Yield of Trio Whole-Genome Sequencing in Children with Undiagnosed Developmental Delay or Congenital Anomaly: A Prospective Cohort Study.

Autor: Kim, Jaewon¹ (AUTHOR), Lee, Jaewoong² (AUTHOR) ljw@catholic.ac.kr, Kim, Myungshin³ (AUTHOR) microkim@catholic.ac.kr, Jang, Dae-Hyun¹ (AUTHOR) microkim@catholic.ac.kr

Publikováno v: Diagnostics (2075-4418). Aug2024, Vol. 14 Issue 15, p1680. 12p.

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Periodical

Findings from University of California San Diego (UCSD) in the Area of Hypogonadism Described (Heterozygous Mutations In Sox2 May Cause Idiopathic Hypogonadotropic Hypogonadism Via Dominant-negative Mechanisms).

Publikováno v: Genomics & Genetics Weekly; 3/31/2023, p486-486, 1p

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Heterozygous mutations in SOX2 may cause idiopathic hypogonadotropic hypogonadism via dominant-negative mechanisms

Autor: Jessica Cassin, Maria I. Stamou, Kimberly W. Keefe, Kaitlin E. Sung, Celine C. Bojo, Karen J. Tonsfeldt, Rebecca A. Rojas, Vanessa Ferreira Lopes, Lacey Plummer, Kathryn B. Salnikov, David L. Keefe Jr., Metin Ozata, Myron Genel, Neoklis A. Georgopoulos, Janet E. Hall, William F. Crowley Jr., Stephanie B. Seminara, Pamela L. Mellon, Ravikumar Balasubramanian

Publikováno v: JCI Insight, Vol 8, Iss 3 (2023)

Pathogenic SRY-box transcription factor 2 (SOX2) variants typically cause severe ocular defects within a SOX2 disorder spectrum that includes hypogonadotropic hypogonadism. We examined exome-sequencing data from a large, well-phenotyped cohort of pat

Externí odkaz: https://doaj.org/article/767994d5a65b43fab45a677b83b0584b

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