research 474 Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility
Certain mutations in the KLHL24 gene cause a skin disorder by breaking down an important skin protein.
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240-270 / 1000+ results research Poly(rC) binding protein 2 acts as a negative regulator of IRES-mediated translation of Hr mRNA
A protein called PCBP2 controls the production of a hair growth protein by interacting with its genetic message and is linked to hair loss when this control is disrupted.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research Functional analysis of vitamin D receptor (VDR) using adenovirus vector
The study found that certain mutations in the vitamin D receptor can cause rickets and potentially affect hair growth.
research Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
Genetic analysis is crucial for diagnosing and managing cerebral arteriopathy.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research LPA-producing enzyme PA-PLA1α regulates hair follicle development by modulating EGFR signalling
The enzyme PA-PLA1α is important for proper hair follicle development.
research Hypothesis: Wound‐induced TLR 3 activation stimulates endogenous retinoic acid synthesis and signalling during regeneration
Activating TLR3 may help produce retinoic acid, important for tissue regeneration.
research National Lipid Association Recommendations for Patient-Centered Management of Dyslipidemia: Part 2
The guidelines suggest lifestyle changes, diet adjustments, and personalized medication to manage dyslipidemia and reduce heart disease risk.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Overexpression of Lnk in the Ovaries Is Involved in Insulin Resistance in Women With Polycystic Ovary Syndrome
Higher Lnk protein levels in ovaries may lead to insulin resistance in women with PCOS.
research Hutchinson-Gilford Progeria Syndrome: Premature Aging
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
research Molecular–clinical correlations in a family with variable tissue mitochondrial DNA T8993G mutant load
Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
research Fine mapping of the human AR/EDA2R locus in androgenetic alopecia
Genetic marker rs12558842 strongly linked to male hair loss.
research Impaired Lef1 activation accelerates iPSC-derived keratinocytes differentiation in Hutchinson-Gilford Progeria Syndrome
Impaired LEF1 activation speeds up skin cell development in Hutchinson-Gilford Progeria Syndrome.
research Quantification of the Vitamin D Receptor−Coregulator Interaction
Vitamin D receptor binds similarly to natural and synthetic ligands, affecting gene regulation.
research 097 LFA-1 blockade prevents the onset of alopecia areata in C3H/HeJ mice
Blocking LFA-1 prevents hair loss in mice.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Drug related lipid metabolism abnormalities: a real-world pharmacovigilance exploratory analysis based on U.S. FDA adverse event reporting system (FAERS)
Many drugs can cause lipid metabolism issues, and labels need better warnings.
research miR ‐203a‐3p promotes loureirin A‐induced hair follicle stem cells differentiation by targeting Smad1
miR-203a-3p helps hair follicle stem cells become specialized by targeting Smad1.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Characterization of Rickets Type II Model Rats to Reveal Functions of Vitamin D and Vitamin D Receptor
The research showed that Vitamin D and its receptor are important for healthy bones and normal hair and skin in rats.
research “Structural imprinting” of the cutaneous immune effector function
Loricrin affects skin immune function and homeostasis.
research Dysregulation of Grainyhead-like 3 expression causes widespread developmental defects
Not having enough or having too much of the protein Grainyhead-like 3 leads to various developmental problems.
research Downregulation of Lhx2 Markedly Impairs Wound Healing in Mouse Fetus
Turning off the Lhx2 gene in mouse embryos leads to slower wound healing and scars.
research Long-lived proteins and DNA as candidate predictive biomarkers for tissue associated diseases
Long-lived proteins may predict age-related diseases.
research ROBO4 deletion ameliorates PAF-mediated skin inflammation via regulating the mRNA translation efficiency of LPCAT1/LPCAT2 and the expression of PAF receptor
Removing the ROBO4 gene in mice reduces skin inflammation and hair loss by affecting certain inflammation pathways and gene expression.