Results 71 to 80 of about 134,584 (262)

COG5-congenital disorder of glycosylation diagnosed by whole genome sequencing in siblings with unexplained optic atrophy, macular atrophy, and developmental delay: case report

Frontiers in Neurology
IntroductionCOG5-related congenital disorder of glycosylation (COG5-CDG) is a rare autosomal recessive metabolic disorder with variable neurologic and ophthalmologic involvement.
Katherine Granger, Catherine Do, Catherine Quindipan, Ryan Schmidt, Ryan Schmidt, Mark S. Borchert, Mark S. Borchert, Aaron Nagiel, Aaron Nagiel, Melinda Y. Chang, Melinda Y. Chang   +10 more
doaj   +1 more source

Recent progress in identifying genetic and epigenetic contributions to epilepsy

Reproductive and Developmental Medicine, 2017
Epilepsy is a serious disorder of the central nervous system characterized by recurrent seizures. There are many known causes of epilepsy, including genetic factors, brain damage, and environmental factors, but the pathogenic mechanisms are largely ...
Zi-Ying Hu, Hong-Yan Wang, Yi Wang
doaj   +1 more source

The microbiome in human skin aging

FEBS Letters, EarlyView.
Age‐related skin changes encompass the well‐known visible phenotypic alterations, together with microbiome dysbiosis and a series of molecular aging hallmarks. These hallmarks characterize not only a fully stablished aged phenotype but also the skin aging process itself.
Manuel Huerta Arana, Cornelia Wiegand, Omid Omrani, Mario Fabri   +3 more
wiley   +1 more source

Dyschromatosis universalis hereditaria: A rare case report

Journal of Mahatma Gandhi Institute of Medical Sciences, 2013
Dyschromatosis universalis hereditaria is an autosomal dominant disorder but may be recessive or sporadically inherited disorder, infrequently occurring genodermatosis with peculiar pigmentary changes, consisting of varying sized, intermingled ...
Esha Bisne, Sonia Jain, V B Shivkumar
doaj   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Partial depletion of plasminogen activator inhibitor‐1 decreases subcutaneous fat cell hypertrophy and liver cholesterol in high‐fat‐fed female mice

FEBS Letters, EarlyView.
Obesity raises blood levels of PAI‐1, a protein linked to metabolic dysfunction‐associated steatotic liver disease in people with obesity. In female mice fed a high‐fat diet, partially lowering PAI‐1 led to smaller subcutaneous fat cells and lower liver cholesterol, without changing body weight or insulin sensitivity.
Claudia E. Ramirez Bustamante, Robert Sharp, Pradip K. Saha, Elizabeth S. Anaya, Elizabeth L. Lieu, Evelyn L. de Groot, Pooja Patel, Mi Jeong Heo, Aaron R. Cox, Kang Ho Kim, Sean M. Hartig   +10 more
wiley   +1 more source

Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder

The Indian Anaesthetists' Forum, 2015
Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
doaj  

Identification of two point mutations associated with inherited antithrombin deficiency

Thrombosis Journal
Background Antithrombin (AT) is a serine protease inhibitor which exerts its anticoagulant effect through binding to serine residues in the active centers of procoagulant serine proteases.
Shiue-Wei Lai, Chia-Yau Chang, Hwei-Jen Lee, Yeu-Chin Chen   +3 more
doaj   +1 more source

Ligand‐dependent transcriptional heterogeneity in cell cycle gene expression delays G1/S entry

FEBS Letters, EarlyView.
EGF and HRG induce distinct G1/S progression programs in ErbB2‐amplified BT474 breast cancer cells. Despite activating the potent ErbB2–ErbB3 heterodimer, HRG does not accelerate cell‐cycle entry. Instead, EGF promotes earlier restriction‐point passage via ERK–FOS signaling, whereas HRG activates the AKT–MYC axis, driving transcriptional heterogeneity ...
Ririn Rahmala Febri, Ayaka Nagasato‐Ichikawa, Keita Iida, Shuhei Kimura, Akira Imamoto, Mariko Okada   +5 more
wiley   +1 more source

Emerging experimental and computational methods for studying redox‐regulated structural transitions

FEBS Letters, EarlyView.
Redox reactions can reshape proteins and alter how they behave in cells, with important consequences for health and disease. This review explores emerging experimental and computational approaches for discovering these redox‐sensitive protein switches, revealing their structural effects, and predicting their behavior, opening new opportunities to ...
Tasneem Rass, Dana Reichmann, Gábor Erdős   +2 more
wiley   +1 more source