Define homozygous. homozygous synonyms, homozygous pronunciation, homozygous translation, English dictionary definition of homozygous. adj. Having the same alleles at a particular gene locus on homologous chromosomes. ho′mo·zy·gos′i·ty n. ho′mo·zy
We report on a patient born to consanguineous parents, presenting with Growth Hormone Deficiency (GHD) and osteoporosis. SNP-array analysis and exome sequencing disclosed long contiguous stretches of homozygosity and two distinct homozygous variants in H
The study was supported by Green Cross Blood Bank, Ahmedabad, India and the Swiss National Science Foundation to SEA. DB is supported by Grant Number P20 RR16469 from NCRR, component of NIH. Web Resources Ensembl, http://www.ensembl.org/Online Mendelian Inheritance in Man (OMIM), http:/...
2A). For TEM, over 50 random flagellar cross-sections were observed for each SPAG6-mutated proband to observe the microtubule assembly in the sperm flagella. In contrast to the typical “9 + 2” configuration that was observed in the normal controls, the overall axonemal ultrastructure ...
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? Biochem Med Metab Biol. 1994 Oct; 53 (1):16–21. [ PubMed ]Strasberg PM, Skomorowski MA, Warren IB, Hilson WL, Callahan ...
Nephrotic syndrome arising from monogenic mutations differs substantially from acquired ones in their clinical prognosis, progression, and disease management. Several pathogenic mutations in the COQ8B gene are known to cause nephrotic syndrome. Here, we used the whole-exome sequencing (WES) technology ...
, autosomal recessive, X-linked recessive or dominant and the coverage (minimum 20x). Sanger sequencing of the TBCK gene was performed on genomic DNA from spleen and paraffin-embedded brain tissue of patient 2. Genomic DNA was also isolated from peripheral blood leukocytes of both par- ents ...
Cross-sections of the biopsy of the vastus lateralis muscle from patient two (Fig. 1b, III-2) at 22 years were stained with H&E, modified Gomori-trichrome, NADH-tetrazolium reductase (NADH-TR), succinate dehydrogenase (SDH), periodic acid Schiff (PAS), Oil-red-O and adaenosine triphosph...
CrossRefView in ScopusGoogle Scholar 9 J.J. Tung, D.V. Hansen, K.H. Ban, A.V. Loktev, M.K. Summers, J.R. Adler 3rd, et al. A role for the anaphase-promoting complex inhibitor Emi2/XErp1, a homolog of early mitotic inhibitor 1, in cytostatic factor arrest of Xenopus eggs Pro...
More than 98% of the human genome is made up of non-coding DNA, but techniques to ascertain its contribution to human disease have lagged far behind our understanding of protein coding variations. Autism spectrum disorder (ASD) has been mostly associated