Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia
C Escouflaire, E Rebours, M Charles, S Orellana… - BMC genomics, 2019 - Springer
Background In mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that
is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only …
is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only …
Developmental Xist induction is mediated by enhanced splicing
X-inactive-specific transcript (Xist) is a long noncoding RNA (lncRNA) essential for
inactivating one of the two X chromosomes in mammalian females. Random X chromosome …
inactivating one of the two X chromosomes in mammalian females. Random X chromosome …