Kidney malformations and Hirschsprung’s disease in carriers of cysteine mutations in exon 10 of the RET proto-oncogene
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DOI: 10.1007/s12020-021-02686-1
Abstract: This investigation aimed at characterizing penetrance and interrelation of the loss-of-function phenotypes, Hirschsprung’s disease and kidney malformations, in carriers of exon 10 REarranged during Transfection (RET) mutations. Comparative analysis of penetrance of and interdependencies between… read more here.
Keywords: mutations exon; hirschsprung disease; disease; kidney malformations ... See more keywords
Longitudinal analysis of serum interleukin‐18 in patients with familial Mediterranean fever carrying MEFV mutations in exon 10
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DOI: 10.1016/j.cyto.2017.10.007
Abstract: Background: Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by mutations in the MEFV gene. Mutations in exon 10 are associated with typical FMF phenotypes, and patients with exon 10 mutations have higher serum… read more here.
Keywords: mutations exon; familial mediterranean; exon mutations; serum ... See more keywords
Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition.
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DOI: 10.1093/hmg/ddac148
Abstract: All mutations in exon 9 of the Cullin3 gene associated with pseudohypoaldosteronism type II (PHA II) contribute to exon skipping to different degrees, but the specific molecular mechanism of this aberrant splicing is still unclear.… read more here.
Keywords: cullin3 gene; double synonymous; mutations exon; synonymous mutations ... See more keywords
Mutational Analysis of EGFR Mutations in Non-Small Cell Lung Carcinoma—An Indian Perspective of 212 Patients
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DOI: 10.3390/ijerph20010758
Abstract: Lung cancer is the world’s leading cause of cancer-related deaths. Epidermal growth factor receptor (EGFR) is one of the critical oncogenes and plays a significant role in tumor proliferation and metastasis. Patients with sensitizing mutations… read more here.
Keywords: cancer; mutations exon; lung; analysis ... See more keywords
Mutations in exon 11 (11.1 and 11.2) of the BRCA1 gene and risk factors for breast cancer in Burkina Faso
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Public Health in Africa"
DOI: 10.4081/jphia.2022.1921
Abstract: Breast cancer is the leading cause of death among women in both developed and developing countries. It is multifactorial, including genetic predispositions such as oncogenic mutations on BRCA1 and 2 genes. The objectives of the… read more here.
Keywords: mutations exon; breast cancer; risk factors; brca1 gene ... See more keywords