Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A de novo del (13) (q33) was found in a 14-month-old boy with hypospadias. Phenotype anomalies included growth retardation, psychomotor retardation (QD = 64), microcephaly with brachycephaly, a round, flat and asymmetrical facies, a normal nose bridge, a small, pointed chin. The patient is heterozygous ESD 2-1. The gene localization may thus be excluded from bands 13q33 and q34 and assigned to bands q31 or q32, if its previous assignment to the q3 region is confirmed.
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PMID:[Del (13) (q33). Exclusion of esterase D (ESD) from 13q33 and q34]. 31 97

A 46,XX,del(10)p13 karyotype (Paris Conference, 1971) was identified in a 5-year-old Negro girl with mental and growth retardation, brachy- and trigonocephaly, downward slanting palpebral fissures, hypotelorism, epicanthal folds, ptosis, strabismus, dysplastic nose, high-arched palate, microdontia, small low-set posteriorly rotated ears, asymmetrical thorax, wide-spaced nipples, and minor abnormalities of hands and feet. Both parents and a brother had normal karyotypes. Expression of more than 50 polymorphic gene loci determining blood groups, serum proteins and red cell enzymes was studied. The results did not permit localization of a gene locus on the deleted segment of chromosome 10. The proposita was heterozygous for the Rh and MN blood groups and for the red cell enzymes adenosine deaminase, glutamate pyruvate transaminase and esterase D. These gene loci are thereby excluded from region 10p13 yields 10pter.
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PMID:Del (10)p autosomal deletion syndrome: clinical, cytogenetic and gene marker studies. 115 Feb 32

A large collection of cultured human tumor cell lines was characterized for the phenotypes of 16 polymorphic enzyme loci: ACP1, ADA, AK1, ESD, FUCA, GLO1, GOT2, G6PD, ME2, PEPA, PEPB, PEPC, PEPD, PGD, PGM1, and PGM3 primarily to detect and monitor against cell line contamination. Among 100 highly characterized cell lines, 59 lines from different patients and 6 pairs of lines (each pair from the same patient's tumor) had unique phenotype combinations and were therefore presumed to be authentic, uncontaminated cell lines. Besides these 71 lines, the remaining 29 lines consisted of several small groups of two to three lines, each group having a different combination and being among the more frequent in the normal population. The 29 lines, therefore, were not suspected to be contaminants. Among unusual findings were the ME2 1 plus 2 phenotype determined for two bladder tumor lines, a G6PD A phenotype found in a line of Caucasian origin determined not to be a HeLa contaminant, and asymmetrical heterozygous phenotypes in several lines. Except for kidney tumor lines, there was no correlation of adenosine deaminase tissue isoenzymes between tumor lines and normal tissues of origin. For several enzymes significant deviations were found in proportions of the phenotypes observed in Caucasian cell lines from expected proportions on the basis of normal population data, indicating possible natural selection among these lines in tissue culture or among the patients of origin.
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PMID:Distinction of seventy-one cultured human tumor cell lines by polymorphic enzyme analysis. 693 74