CYP24A1 expression analysis in uterine leiomyoma regarding MED12 mutation profile
Sign Up to like & getrecommendations! Published in 2020 at "Archives of Gynecology and Obstetrics"
DOI: 10.1007/s00404-020-05825-7
Abstract: Uterine leiomyoma (ULM) is the most common gynecological tumor. Recent studies have revealed the role of hypovitaminosis D as a major risk factor in the disease development. CYP24A, a mitochondrial enzyme that catalyzes the degradation… read more here.
Keywords: mutation profile; med12 mutation; expression; uterine leiomyoma ... See more keywords
Differential mutation profile of SARS-CoV-2 proteins across deceased and asymptomatic patients
Sign Up to like & getrecommendations! Published in 2021 at "Chemico-Biological Interactions"
DOI: 10.1016/j.cbi.2021.109598
Abstract: Background The SARS-CoV-2 infection has spread at an alarming rate with many places showing multiple peaks in incidence. Present study analyzes a total of 332 SARS-CoV-2 genome sequences from 114 asymptomatic and 218 deceased patients… read more here.
Keywords: deleterious variants; mutation profile; cov proteins; sars cov ... See more keywords
Impact of the mutation profile on thrombotic risk in cancer patients.
Sign Up to like & getrecommendations! Published in 2021 at "Revista clinica espanola"
DOI: 10.1016/j.rceng.2021.04.008
Abstract: Patients with cancer present with an elevated risk of thrombosis, which entails high morbidity and mortality. Various predictive scales that incorporate clinical and biological data have been developed to identify those at high risk of… read more here.
Keywords: cancer; mutation profile; risk; thrombosis ... See more keywords
Somatic Mutation Profile of Atypical Fibroxanthoma and Cutaneous Undifferentiated Pleomorphic Sarcoma.
Sign Up to like & getrecommendations! Published in 2020 at "Dermatologic Surgery"
DOI: 10.1097/dss.0000000000002342
Abstract: 1. Asgari MM, Bertenthal D, Sen S, Sahay A, et al. Patient satisfaction after treatment of nonmelanoma skin cancer.Dermatol Surg 2009;35: 1041–9. 2. Asgari MM, Warton EM, Neugebauer R, Chren MM. Predictors of patient satisfaction… read more here.
Keywords: dermatol; somatic mutation; fibroxanthoma cutaneous; profile atypical ... See more keywords
Meckel syndrome: Clinical and mutation profile in six fetuses
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DOI: 10.1111/cge.13623
Abstract: Meckel syndrome (MKS) is a perinatally lethal, genetically heterogeneous, autosomal recessive condition caused by defective primary cilium formation leading to polydactyly, multiple cysts in kidneys and malformations of nervous system. We performed exome sequencing in… read more here.
Keywords: profile six; mutation profile; clinical mutation; meckel syndrome ... See more keywords
Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study
Sign Up to like & getrecommendations! Published in 2019 at "Italian Journal of Pediatrics"
DOI: 10.1186/s13052-019-0659-1
Abstract: BackgroundBardet–Biedl syndrome (BBS) is a rare inherited multisystemic disorder with autosomal recessive or complex digenic triallelic inheritance. There is currently no treatment for BBS, but some morbidities can be managed. Accurate molecular diagnosis is often… read more here.
Keywords: mutation; genes patients; mutation profile; bbs genes ... See more keywords