Results 241 to 250 of about 1,469,179 (291)
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson+10 more
wiley +1 more source
Improving the diversity of the PLOS ONE editorial board. [PDF]
Ei Cho S, Chenette EJ.
europepmc +1 more source
Gut Microbiome Pilot Study of Patients With CHARGE Syndrome and Sibling Controls
ABSTRACT Difficulties with feeding and digestion are common in individuals with CHARGE syndrome. Animal models with CHD7 gene variants demonstrate abnormal gut innovation and dysmotility. Our pilot study evaluated whether individuals with CHARGE syndrome have differences in their gut microbiome compared to unaffected siblings.
Emily R. Chedrawe+5 more
wiley +1 more source