XLIDX-Linked Immunodeficiency Diseases
Copyright 1988-2018 AcronymFinder.com, All rights reserved.
References in periodicals archive ?
(2013) The XLID protein PQBP1 and the GTPase Dynamin 2 define a signaling link that orchestrates ciliary morphogenesis in postmitotic neurons.
By no means is this classification dilemma specific to XLID genes.
[3] Nonstandard abbreviations: NGS, next generation sequencing; XLID, X-linked intellectual disability; EVP, Exome Variant Project; HGMD, Human Gene Mutation Database.
To discover the new protein, scientists analysed the genes that may cause XLID and they found two proteins, HSD17B10 and HUWE1, involved in brain development.
Abbreviations: LTR: long terminal repeat; Peg: paternally expressed gene; Meg: maternally expressed gene; ICR: imprinting control center; DMR: differentially methylated region; upd14pat: uniparental disomy of paternal chromosome 14; XCI: X chromosome inactivation; CTCF: CCCTC-binding factor; PGC: primordial germ cell; miRNA: micro RNA; SINE: short interspersed nuclear element; LINE: long interspersed nuclear element; Ma: million years ago; SIRH: sushi-ichi related retrotransposon homologue; PNMA: paraneoplastic Ma antigen; XLID: X-linked intellectual disability; mC: methyl cytosine; hmC: hydroxylmethyl cytosine; HERV: human endogenous retrovirus; P-Tr: Permian-Triassic; Tr-J: Triassic-Jurassic; K-Pg: Kreide-Paleogene.