Results 41 to 50 of about 2,561,602 (268)
Sporadic hemiplegic migraine and CREST syndrome [PDF]
The Journal of Headache and Pain, 2010 Hemiplegic migraines are characterised by attacks of migraine with aura accompanied by transient motor weakness. There are both familial and sporadic subtypes, which are now recognised as separate entities by the International Classification of Headache Disorders, edition II (ICHD-II).
Grecco, Martin Pablo +4 more
openaire +2 more sources
Human Molecular Genetics, 2019 Kabuki syndrome is an autosomal dominant developmental disorder with high similarities to CHARGE syndrome. It is characterized by a typical facial gestalt in combination with short stature, intellectual disability, skeletal findings and additional ...
Janina Schwenty-Lara +2 more
semanticscholar +1 more source
Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?
FEBS Letters, EarlyView.This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes +3 more
wiley +1 more source
FEBS Letters, EarlyView.Cryptochrome and PAS/LOV proteins play intricate roles in circadian clocks where they act as both sensors and mediators of protein–protein interactions. Their ubiquitous presence in signaling networks has positioned them as targets for small‐molecule therapeutics. This review provides a structural introduction to these protein families.
Eric D. Brinckman +2 more
wiley +1 more source
Aebp2 as an epigenetic regulator for neural crest cells. [PDF]
PLoS ONE, 2011 Aebp2 is a potential targeting protein for the mammalian Polycomb Repression Complex 2 (PRC2). We generated a mutant mouse line disrupting the transcription of Aebp2 to investigate its in vivo roles.
Hana Kim +4 more
doaj +1 more source
Structural biology of ferritin nanocages
FEBS Letters, EarlyView.Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley +1 more source
Small lymphocytic lymphoma in a patient with CREST syndrome
Hematology/Oncology and Stem Cell Therapy, 2011 We report a case of a 61-year-old man with a history of CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) who presented for evaluation of thrombocytopenia.
Basem M. William +3 more
doaj +1 more source
Cell Death and Disease, 2022 Down syndrome (DS) is the most common chromosomal abnormality in live-born infants and is caused by trisomy of chromosome 21. Most individuals with DS display craniofacial dysmorphology, including reduced sizes of the skull, maxilla, and mandible ...
Huanyao Liu +18 more
doaj +1 more source
Primary biliary cirrhosis and CREST syndrome [PDF]
Revista Española de Enfermedades Digestivas, 2004 A 54-year-old woman suffering from Raynaud’s phenomenon for many years. She had noticed a gradual disappearanceof the skin folds of her face and a lack of ability to open her mouth. Her limbs showed sclerodactyly and isolated telan-giectases (Fig. 1a). She had positive anticentromere antibody.She was evaluated because of dysphagia with solids, pyrosis ...
Marín Gabriel,J. C. +1 more
openaire +3 more sources
FEBS Open Bio, EarlyView.CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point +7 more
wiley +1 more source