research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
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660-690 / 1000+ results research Nilotinib-Induced Keratosis Pilaris
Nilotinib can cause keratosis pilaris, a skin condition.
research Kin‐cohort analysis of LRRK2‐G2019S penetrance in Parkinson's disease
The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
research LncRNA RP11-818024.3 Promotes Hair-Follicle Recovery Via FGF2-PI3K/Akt Signal Pathway
LncRNA RP11-818024.3 helps hair growth and recovery in hair loss by boosting cell survival and reducing cell death.
research Polymorphism of the Androgen Receptor Gene is Associated with Male Pattern Baldness
Male pattern baldness is linked to specific genetic variations in the androgen receptor gene.
research Progeny of Lgr5-expressing hair follicle stem cell contributes to papillomavirus-induced tumor development in epidermis
research LncRNA NEAT1 and miRNA 101 as potential diagnostic biomarkers in patients with alopecia areata
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia
The study found genetic diversity in coat color dilution among Czech pointers in Slovakia.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research Skin tumors with matrical differentiation: lessons from hair keratins, beta‐catenin and PHLDA ‐1 expression
Matrical tumors share a common growth mechanism involving the Wnt pathway and consistent PHLDA1 expression.
research Plakophilin 1 suppresses keratinocyte innate immune responses through DExD/H helicases
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
research Primary cicatricial alopecias are characterized by dysregulation of shared gene expression pathways
Similar treatments might work for different types of scarring hair loss.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Association between VEGF gene polymorphisms (11 sites) and polycystic ovary syndrome risk
Certain changes in the VEGF gene can increase or decrease the risk of polycystic ovary syndrome.
research Proline-rich protein-like PRPL1 controls elongation of root hairs in Arabidopsis thaliana
A gene in Arabidopsis thaliana, AtPRPL1, affects root hair length but not cell wall composition.
research Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
New mutations in hair keratin genes cause the rare hair disorder monilethrix.
research Association between epidermal growth factor and epidermal growth factor receptor gene polymorphisms and susceptibility to alopecia areata in Korean population
Certain gene variations might increase the risk of a hair loss condition in Koreans.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Causal associations between plasma proteins and prostate cancer: a Proteome-Wide Mendelian Randomization
Certain plasma proteins are linked to prostate cancer risk and could help in early detection and treatment.
research Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
The MTHFR C677T mutation may increase the risk of alopecia areata in the Turkish population.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Genetic deletion of TNFα inhibits ultraviolet radiation-induced development of cutaneous squamous cell carcinomas in PKCε transgenic mice via inhibition of cell survival signals
Deleting TNFα gene reduces skin cancer risk in certain mice.
research Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis
HLA-DRB5 and other genes may be linked to alopecia universalis.
research mRNA Levels of Aromatase, 5α-Reductase Isozymes, and Prostate Cancer-Related Genes in Plucked Hair from Young Men with Androgenic Alopecia
Men with early balding showed higher levels of certain genes linked to hair loss and possibly prostate cancer.
research Comprehensive Transcriptome Profiling of Balding and Non-Balding Scalps in Trichorhinophalangeal Syndrome Type I Patient
The study found genetic differences related to hair development that may explain hair loss in a patient with Trichorhinophalangeal syndrome type I.