Results 101 to 110 of about 79,532 (296)
Genetic investigation of non-syndromic hereditary deafness [PDF]
, 2015 The precise diagnosis of hearing loss can be clarified by genetic investigation. Non-syndromic hearing loss is responsible for 70% of all genetic causes of hearing loss. More than 100 genes are potentially involved in non-syndromic hearing loss.
Pfeilsticker, Leopoldo N. +4 more
core +1 more source
Non syndromic congenital malformations - a DNA study using comet assay
National Journal of Clinical Anatomy, 2014 Background and Objectives: The role of genomic instability resulting from chromosomal aberrations, gene mutations due to deletions, translocations and single gene defects is a known phenomenon leading to DNA damage.
Rijied Thompson Swer +2 more
doaj +1 more source
FEBS Open Bio, EarlyView.In normal (nontolerant) cells, CD14 is crucial for both LPS uptake and LPS signaling. In LPS‐tolerant cells, in which LPS‐induced TNF‐α and IFN‐β production is suppressed, there is a dramatic increase in surface CD14 expression. The overexpressed CD14 in LPS‐tolerant cells is responsible for the enhanced LPS uptake without inducing pro‐inflammatory ...
Saeka Nishihara +3 more
wiley +1 more source
Investigating GJB2 Mutation in 31 Individuals With Non-syndromic Hearing Loss
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, 2021 Background and Aim: Non-syndromic hearing loss is a genetically heterogeneous disorder. Mutation in the GJB2 gene is a major cause of non-syndromic hearing loss in numerous countries. This study aimed to evaluate GJB2 mutations in 31 individuals with non-
Pedram Pouryari Biyachal +2 more
doaj
Small RNA pathways in mammalian oocytes
FEBS Open Bio, EarlyView.Three distinct small RNA pathways operate in mammalian oocytes: RNAi interference (RNAi), the microRNA (miRNA) pathway, and the PIWI‐associated RNA (piRNA) pathway. These pathways use small RNAs to guide sequence‐specific repression and contribute to oocyte biology by targeting genes and mobile elements or appear insignificant since different ...
Petr Svoboda, Josef Pasulka
wiley +1 more source
Хирургия позвоночника, 2018 Objective. To analyze clinical and radiological features of congenital atlantoaxial dislocations (AAD) in congenital craniovertebral junction malformations. Material and Methods. The data of 26 patients with AAD associated with congenital pathology of
Olga M. Pavlova +3 more
doaj +1 more source
Molecular characterization of covRS mutations in M1UK Streptococcus pyogenes
FEBS Open Bio, EarlyView.Group A Streptococcus (GAS) acquires covRS mutations driving a hypervirulent bacterial state, frequently associated with invasive disease‐like necrotizing fasciitis. We demonstrate that the newly emerged M1UK GAS lineage can also acquire these mutations.
Jarrad Pritchard +12 more
wiley +1 more source
FEBS Open Bio, EarlyView.IGFBP4 knockdown (KD) impairs preadipocyte proliferation and is associated with IGF1R protein downregulation and attenuated AKT phosphorylation. The mechanisms by which IGFBP4 KD influences the IGF1R/AKT signaling pathway involve newly synthesized proteins and lysosomal degradation pathways. Created in BioRender.
Yujia Guo +6 more
wiley +1 more source
Genetics of Non-Syndromic Autosomal Recessive Mental Retardation [PDF]
, 2013 Non-syndromic mental retardation is one of the most serious neurodevelopmental disorders, which has a serious impact not only on the affected individuals and their families but also on the health care system and society. Previously research has been more
Afroze, Bushra, Chaudhry, Bushra
core +1 more source
Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation [PDF]
, 2018 The purpose of this study is to uncover the genetic cause for non-syndromic macularThis work was funded by the Saudi Human Genome Program, KACST, and in part by grants from KSCDR (FSA) and KAUST (STA, MAA)
Khan, Arif O. +5 more
core +1 more source