Heterozygous mutations

Severe congenital neutropenia (SCN) is an exceptionally rare genetic disorder associated with life-threatening bacterial infections. Among the several genetic variations related to SCN, heterozygous mutations in the ELANE gene encoding neutrophil elastase account for approximately 40 - 55% of the genetic causes.

6p vinatisu 29-08-2024 4 1   Download

The tissue-specific transcription factorsHNF1aandHNF1b are closely related homeodomain proteins conserved in vertebrate evolution. Heterozygous mutations in human HNF1b 1 but not inHNF1agenes are associated with kidney malformations. Overexpression of HNF1b in Xenopus embryos leads to defective pronephros development, while HNF1ahas no effect. We have defined the regions respon-sible for this functional difference between HNF1band HNF1ain transfected HeLa cells as well as in injected Xenopusembryos. ...

14p awards 05-04-2013 44 3   Download

Heterozygous loss-of-function mutations at the glucosecerebrosidase locus have recently been shown to be a potent risk factor for Lewy body disease. Based on this observation, we have re-evaluated the likelihood that the dif-ferent PARK loci (defined using clinical criteria for disease) may be misleading attempts to find common pathways to pathogenesis.

7p vinaphone15 28-02-2013 49 3   Download

Cerebral cavernous malformations (CCM) are vascular lesions which can occur as a sporadic (80% of the cases) or familial autosomal dominant form (20%). Three CCM genes have been identified: CCM1⁄KRIT1, CCM2⁄MGC4607and CCM3⁄PDCD10. Almost 80% of CCM patients affected with a genetic form of the disease harbor a heterozygous germline mutation in one of these three genes.

6p mobifone23 18-01-2013 33 4   Download

Mutation cuả BRCA1, BRCA2 allele thấy trong ung thư vú, buồng trứng và prostate. Các tb có heterozygous BRCA mutations có thể mất wildtype allele, cho nên không sửa chữa được DNA, và vì thế tạo ra ung thư. Theory hiện tại về carcinogenesis cho rằng việc mất wild type allele (DNAREPAIR DEFECT) phải là một giai đoạn bắt buộc trong tiến trình ung thư. PARPs (PolyAdenosine diphosphate Ribose Polymerases) là multifunctional enzymes trong việc sửa chữa gẫy single stranded DNA. ...

5p sinhtobo111 13-04-2011 42 6   Download