Search Results - "Tang, Paisu"
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Dimerization of SOX9 is required for chondrogenesis, but not for sex determination
Published in Human molecular genetics (15-07-2003)“…The SRY-related SOX9 gene is involved in both chondrogenesis and the early steps of mammalian sex determination. Mutations in the human SOX9 gene cause…”
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2
Localization of the Chromatin Remodelling Protein, ATRX in the Adult Testis
Published in Journal of Reproduction and Development (01-06-2011)“…Mutations in ATRX (alpha-thalassaemia and mental retardation on the X-chromosome) can give rise to ambiguous or female genitalia in XY males, implying a role…”
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Comparative analysis of the ATRX promoter and 5' regulatory region reveals conserved regulatory elements which are linked to roles in neurodevelopment, alpha-globin regulation and testicular function
Published in BMC research notes (15-06-2011)“…ATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked…”
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Lymphedema distichiasis syndrome may be caused by FOXC2 promoter‐enhancer dissociation and disruption of a topological associated domain
Published in American journal of medical genetics. Part A (01-01-2021)“…Lymphedema distichiasis syndrome (LDS) is a rare autosomal dominant condition characterized by lower limb lymphedema, distichiasis, and variable additional…”
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ATRX and sex differentiation
Published in Trends in endocrinology and metabolism (01-09-2004)“…Most interest in the gene encoding the α-thalassemia, mental retardation, X-linked protein ( ATRX) has traditionally been focused on its role in brain…”
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