Zobrazeno 1 - 10
of 122
pro vyhledávání: '"X‐chromosome inactivation (XCI)"'
Publikováno v:
Molecular Cytogenetics, Vol 15, Iss 1, Pp 1-6 (2022)
Abstract Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq usually show mild symptoms due to
Externí odkaz:
https://doaj.org/article/e87400fb6fb44cf5b24826f3483b822c
Publikováno v:
Frontiers in Dental Medicine, Vol 4 (2023)
Many autoimmune diseases show a striking female sex predilection, including primary Sjögren's disease (pSD). Patients with pSD display exocrine gland pathology, such as salivary hypofunction and salivary and lacrimal gland inflammation. Moreover, ma
Externí odkaz:
https://doaj.org/article/627aefbc0d2746658b3f9d3abdfc2e60
Autor:
Yixi Sun, Yangwen Qian, Hai-Xi Sun, Min Chen, Yuqin Luo, Xiaojing Xu, Kai Yan, Liya Wang, Junjie Hu, Minyue Dong
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Skewed XCI plays an important role in the phenotypic heterogeneities of many X-linked disorders, even involving in diseases caused by XCI-escaping genes. DDX3X-related intellectual disability is more common in females and less common in males, who us
Externí odkaz:
https://doaj.org/article/16a6ef90ba1e45b8bc8c8192c86474ab
Autor:
Jariya Upadia, Nicolette Walano, Grace S. Noh, Jiao Liu, Yuwen Li, Stephen Deputy, Lindsay T. Elliott, Joaquin Wong, Jennifer A. Lee, Raymond C. Caylor, Hans C. Andersson
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 35-43 (2021)
Abstract HSD10 disease is a rare X‐linked mitochondrial disorder caused by pathogenic variants in the HSD17B10 gene. The phenotype results from impaired 17β‐hydroxysteroid dehydrogenase 10 (17β‐HSD10) protein structure and function. HSD10 is
Externí odkaz:
https://doaj.org/article/3fbc2e6e2cdf41bfaec3c78531e62197
Autor:
Caroline Miller, Benjamin G. Gertsen, Audrey L. Schroeder, Chin-To Fong, M. Anwar Iqbal, Bin Zhang
Publikováno v:
Molecular Cytogenetics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, dental anomalies, dysmorphic
Externí odkaz:
https://doaj.org/article/b2a64b3874e44e11b3c38aebdab1012f
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/61b9c938bd5d494e9d48aa6b3dc0d31c
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Prenatal risk assessment of carriers of heterozygous X-linked deletion is a big challenge due to the phenotypic modification induced by X chromosome inactivation (XCI). Herein, we described four Chinese pedigrees with maternal-inherited X-deletions a
Externí odkaz:
https://doaj.org/article/f57044e75ff74293a08fa48eb188432e
Publikováno v:
Biology Open, Vol 10, Iss 4 (2021)
X chromosome inactivation (XCI), determined during development, remains stable after embryonic cell divisions. However, primordial germ cells (PGCs) are exceptions in that XCI is reprogrammed and inactivated X chromosomes are reactivated. Although in
Externí odkaz:
https://doaj.org/article/563a6c33bd33462f970376a2debec833
Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 10 (2019)
Skewed X-chromosome inactivation (XCI) plays an important role in the phenotypic heterogeneity of X-linked disorders. However, the role of skewed XCI in XCI-escaping gene SHOX regulation is unclear. Here, we focused on a heterozygous deletion of SHOX
Externí odkaz:
https://doaj.org/article/2535128cc11943a8a7cc54ee65fb999b