Results 51 to 60 of about 9,256,185 (298)
Exploring the Hereditary Nature of Migraine
Neuropsychiatric Disease and Treatment, 2021 Charlene Bron, Heidi G Sutherland, Lyn R Griffiths Queensland University of Technology (QUT), Centre for Genomics and Personalised Health, Genomics Research Centre, School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland,
Bron C, Sutherland HG, Griffiths LR
doaj
Alpha thalassaemia-mental retardation, X linked
Orphanet Journal of Rare Diseases, 2006 X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia.
Gibbons Richard
doaj +1 more source
Therapeutic Apheresis and Dialysis, EarlyView.ABSTRACT Background Chronic micro‐inflammation in patients with end‐stage renal disease (ESRD) is a significant driver of cardiovascular complications and diminished quality of life. While standard hemodialysis (SHD) effectively manages small‐molecule clearance, its ability to remove medium‐to‐large uremic toxins—the primary catalysts of systemic ...
Hongwei Zuo +5 more
wiley +1 more source
Oral-Facial-Digital Syndrome :A Case Report
Journal of Clinical and Basic Research, 2021 Background: The oral-facial-digital (OFD) syndrome is a group of hereditary disorders, manifested by anomalies of the oral cavity, face and digits that may be associated with cerebral malformations and polycystic kidney disorder.
Sabry Nasr Ahmed, Amna A Ahmed
doaj
An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane
FEBS Letters, EarlyView.Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa +3 more
wiley +1 more source
FEBS Letters, EarlyView.Ascidian Ciona larvae initially show strong clockwise tail twisting, which is largely corrected during development. However, a small residual twist remains. This study shows that organized helical myofibrils in tail muscles mechanically stabilize this residual asymmetry, preventing complete restoration of bilateral symmetry and revealing how embryos ...
Yuki S. Kogure +3 more
wiley +1 more source
Human Heredity, 1981 A Greek family is described in which myopia seemingly follows an X-linked pattern of inheritance. This observation supports the existence of an X-linked form of myopia, disputed until now.
BARTSOCAS, CS, KASTRANTAS, AD
openaire +3 more sources
MAP7D2 is a brain expressing X-linked maternal imprinted gene in humans [PDF]
, 2011 Increasing evidence suggests imprinted genes influence mouse and human behaviors and cognitive functions. Unlike autosomal imprinted genes, X-linked imprinted genes are expressed in a sex-dependent manner because of male hemizygosity.
Yo Niida, Akihiro Yachie
core
FEBS Letters, EarlyView.Septin 9 polybasic domains couple phosphoinositide‐rich membrane binding to centrosome positioning, Golgi organization, and microtubule acetylation to control epithelial polarity. Their loss disrupts this axis, causing centrosome mispositioning, Golgi fragmentation, reduced microtubule acetylation, and polarity inversion via upregulation of the ...
Ting ting Cai +4 more
wiley +1 more source
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
FEBS Letters, EarlyView.Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source