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PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
Since 2009, most researchers use a different nomenclature based on the gene defect (e.g. CDG-Ia = PMM2-CDG, CDG-Ib = PMI-CDG, CDG-Ic = ALG6-CDG etc.). [33] The reason for the new nomenclature was the fact that proteins not directly involved in glycan synthesis (such as members of the COG-family [ 34 ] and vesicular H+-ATPase) [ 35 ] were found ...
5373 54128 Ensembl n/a ENSMUSG00000022711 UniProt O15305 Q9Z2M7 RefSeq (mRNA) NM_000303 NM_016881 NM_001362485 RefSeq (protein) NP_000294 NP_058577 NP_001349414 Location (UCSC) n/a Chr 16: 8.46 – 8.48 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 2 is an enzyme that in humans is encoded by the PMM2 gene. Function Phosphomannomutase 2 catalyzes the isomerization ...
Epi Info is used for analysis in medical research, and for data entry. Examples of its use for research include a study of eye conditions, [6] a study of healthcare infections [7] and a study of psychiatric morbidity. [8] Examples of papers that used Epi Info for data entry include a study on nutrition [9] and an epidemiological survey about ...
Disorders of sex development (DSDs), also known as differences in sex development or variations in sex characteristics (VSC), [2] [3] are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical. [4]
An SDRF file is a tab-delimited file describing the relationships between samples, arrays, data, and other objects used or produced in a microarray investigation. For simple experimental designs, constructing the SDRF file is straightforward, and even complex loop designs can be expressed in this format.
ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. [1]
29858 Ensembl ENSG00000100417 ENSMUSG00000022474 UniProt Q92871 O35621 RefSeq (mRNA) NM_002676 NM_001282040 NM_001282041 NM_013872 RefSeq (protein) NP_002667 NP_001268969 NP_001268970 NP_038900 Location (UCSC) Chr 22: 41.58 – 41.59 Mb Chr 15: 81.84 – 81.85 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Phosphomannomutase 1 is an enzyme that in humans is encoded by the PMM1 gene ...