Zobrazeno 1 - 10
of 113
pro vyhledávání: '"sox9 gene"'
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
SRY-box transcription factor 9 (SOX9) (OMIM 608160) is a transcription factor. The expression of SOX9 in pan-cancers and the regulation by small molecules in cancer cell lines are unclear. In the current study, we comprehensively analyzed the express
Externí odkaz:
https://doaj.org/article/b9aadcf633b04f4687c48833c0e7936c
Autor:
Carlos A. Calvache, Estefanía C. Vásquez, Vanessa I. Romero, Kazuyoshi Hosomichi, Juan C. Pozo
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundCampomelic dysplasia (CD) is a rare disorder that involves the skeletal and genital systems. This condition has been associated with a diverse set of mutations in the SRY-box transcription factor 9 (SOX9) gene.Case presentationWe herein rep
Externí odkaz:
https://doaj.org/article/f23161e3f8fe45eebe311f4ab9ba76aa
Autor:
A. B. Okulov, E. A. Volodko, O. Yu. Latyshev, D. N. Godlevsky, E. V. Timokhovich, K. K. Mirakov, K. S. Nikitin, A. V. Anikiev
Publikováno v:
Андрология и генитальная хирургия, Vol 21, Iss 4, Pp 98-102 (2021)
The clinical case of a rare variant of disorder of sex development (DSD) is described. This disorder was diagnosed with an emergency operation for the traumatic rupture of the gonad. A patient (14 years old) with a male phenotype and lack of muller d
Externí odkaz:
https://doaj.org/article/bb33aa694d2e4c60af0887b1e2885a13
Autor:
Ha Na Lee, Chae Young Kim, Euiseok Jung, Beom Hee Lee, Byong Sop Lee, Ellen Ai Rhan Kim, Ki-Soo Kim
Publikováno v:
Neonatal Medicine, Vol 27, Iss 4, Pp 197-201 (2020)
Campomelic dysplasia (CD) is a rare genetic disease characterized by skeletal dysplasia that also affects several other organ systems. CD is caused by a SOX9 mutation. We here report a case of CD with a 46, XY karyotype and female external genitalia.
Externí odkaz:
https://doaj.org/article/2ed8844d000b43c6bb369d3a5e379be3
Publikováno v:
Journal of Orthopaedic Surgery and Research, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Congenital talipes equinovarus (CTEV) is a common birth defect that causes severe deformities of one or both feet. Genetics have been proven to play a key role in the risk of CTEV. Our study aimed to evaluate the genetic susceptib
Externí odkaz:
https://doaj.org/article/53f54fc6576e4cf0b7ef025a4ffea0ce
Autor:
Marie‐Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt
Publikováno v:
Clinical Case Reports, Vol 7, Iss 7, Pp 1352-1354 (2019)
Abstract Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by SOX9 haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs. The de
Externí odkaz:
https://doaj.org/article/1ef3b0e4fd95484c97fd830f2dc2507d
Publikováno v:
Indian Journal of Plastic Surgery, Vol 49, Iss 02, Pp 253-257 (2016)
Acampomelic campomelic dysplasia (CD) is a type of CD (CD; OMIM #114290), a rare form of congenital short-limbed dwarfism and is due to mutations in SOX9 gene family. Characteristic phenotypes of CD include bowing of the lower limbs, a narrow thoraci
Externí odkaz:
https://doaj.org/article/0a47e909bb194955a3f9efb84f115bd2
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Publikováno v:
Journal of the Formosan Medical Association, Vol 105, Iss 12, Pp 1013-1016 (2006)
Campomelic dysplasia (CD; OMIM #114290) is an autosomal dominant, frequently lethal dysplasia syndrome whose primary features include angular bowing and shortening of the limbs, and sex reversal in the majority of affected XY individuals. Most CD cas
Externí odkaz:
https://doaj.org/article/5469a972a9a94305be59a60952f73a29