LAUSR

Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family

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0 Published in 2024 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2478

Abstract: Otitis media (OM) is the most frequent and complex middle ear condition with multifactorial etiology including genetic predisposition. OM depicts a variable clinical spectrum, leading to speech, developmental delay, and hearing loss. Here, we report… read more here.

Keywords: identification rare; pakistani family; otitis media; consanguineous pakistani ... See more keywords

Identification of rare variants in CADM1 in patients with anorexia nervosa

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0 Published in 2020 at "Psychiatry Research"

DOI: 10.1016/j.psychres.2020.113191

Abstract: As a polygenic psychiatric disorder, the genetics of anorexia nervosa (AN) remains largely unexplored. Recently a large GWAS meta-analysis identified a significant SNP (rs6589488) as associated with AN. We suggested that rs6589488 might have gotten… read more here.

Keywords: patients anorexia; cadm1 patients; anorexia nervosa; identification rare ... See more keywords

Identification of rare paired box 3 variant in strabismus by whole exome sequencing.

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1 Published in 2017 at "International journal of ophthalmology"

DOI: 10.18240/ijo.2017.08.06

Abstract: AIM To identify the potentially pathogenic gene variants that contributes to the etiology of strabismus. METHODS A Chinese pedigree with strabismus was collected and the exomes of two affected individuals were sequenced using the next-generation… read more here.

Keywords: exome sequencing; rare paired; identification rare; whole exome ... See more keywords

Corrigendum: Identification of Rare PB2-D701N Mutation from a Patient with Severe Influenza: Contribution of the PB2-D701N Mutation to the Pathogenicity of Human Influenza

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1 Published in 2017 at "Frontiers in Microbiology"

DOI: 10.3389/fmicb.2017.01080

Abstract: [This corrects the article on p. 575 in vol. 8, PMID: 28421062.]. read more here.

Keywords: corrigendum identification; pb2 d701n; d701n mutation; identification rare ... See more keywords

Identification of a Rare EGFR T790I Mutation in Lung Adenocarcinoma Sensitive to Osimertinib

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0 Published in 2021 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2021.727312

Abstract: Estimated glomerular filtration rate (EGFR)-sensitive mutations are extremely important for targeted treatment strategies in lung cancer. Osimertinib can effectively inhibit the activity of EGFR-sensitive mutations, including the T790M mutation. However, the efficiency of osimertinib for… read more here.

Keywords: lung adenocarcinoma; identification rare; rare egfr; t790i mutation ... See more keywords