Výsledky vyhledávání - "Prader–Willi-like syndrome"

Akademický článek

Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome

Autor: Chong Kun Cheon

Publikováno v: Annals of Pediatric Endocrinology & Metabolism, Vol 21, Iss 3, Pp 126-135 (2016)

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndr

Externí odkaz: https://doaj.org/article/c846fa66d1dd47f6a18eeb7efe289839

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Two new cases with novel pathogenic variants reflecting the clinical diversity of Schaaf‐Yang syndrome

Autor: Ceren Alavanda, Esra Arslan Ateş, Zehra Yavaş Abalı, Bilgen Bilge Geçkinli, Serap Turan, Ahmet Arman

Publikováno v: Clinical Genetics.

Schaaf-Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay/intellectual disability. Although it shares some common features with Prader-Willi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ddba24af20d1d4c0709c6b3efce4fade
https://doi.org/10.1111/cge.14320

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Akademický článek

Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

Autor: Mathew A. Coban, Patrick R. Blackburn, Murray L. Whitelaw, Mieke M. van Haelst, Paldeep S. Atwal, Thomas R. Caulfield

Publikováno v: Biomolecules, Vol 10, Iss 9, p 1314 (2020)

Single-minded homologue 1 (SIM1) is a transcription factor with numerous different physiological and developmental functions. SIM1 is a member of the class I basic helix-loop-helix-PER-ARNT-SIM (bHLH–PAS) transcription factor family, that includes

Externí odkaz: https://doaj.org/article/fd9cee8ddfeb498d9b1ad6472beae06f

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Akademický článek

First Case Report of Prader–Willi-Like Syndrome in Colombia

Autor: Estephania Candelo, Max M. Feinstein, Diana Ramirez-Montaño, Juan F. Gomez, Harry Pachajoa

Publikováno v: Frontiers in Genetics, Vol 9 (2018)

Background: Prader–Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11�

Externí odkaz: https://doaj.org/article/16972d44549848baa34bea4e599db67b

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Akademický článek

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Akademický článek

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Structural models for the dynamic effects of loss-of-function variants in the human sim1 protein transcriptional activation domain

Autor: Paldeep S. Atwal, Mathew A. Coban, Murray L. Whitelaw, Patrick R. Blackburn, Thomas R. Caulfield, Mieke M. van Haelst

Publikováno v: Biomolecules, Vol 10, Iss 1314, p 1314 (2020)
Biomolecules, 10(9):1314, 1-17. Multidisciplinary Digital Publishing Institute (MDPI)
Biomolecules
Volume 10
Issue 9
Coban, M A, Blackburn, P R, Whitelaw, M L, van Haelst, M M, Atwal, P S & Caulfield, T R 2020, ' Structural models for the dynamic effects of loss-of-function variants in the human sim1 protein transcriptional activation domain ', Biomolecules, vol. 10, no. 9, 1314, pp. 1-17 . https://doi.org/10.3390/biom10091314

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::326fe29370128828d74a5b344843fe2a
http://www.scopus.com/inward/record.url?scp=85090919780&partnerID=8YFLogxK

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