research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
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840-870 / 1000+ results research Impaired Cardiometabolic Effects of Bromocriptine in Men With Early‐Onset Androgenic Alopecia
Men with early-onset hair loss have less cardiometabolic benefit from bromocriptine.
research Patchy presentation of central centrifugal cicatricial alopecia
CCCA can appear as patchy hair loss in younger men, not just the usual pattern.
research 0961 Exploring mitochondrial dysfunction in miniaturized hair follicles: Insights into androgenetic alopecia
Miniaturized hair follicles in androgenetic alopecia show abnormal mitochondrial activity and damage.
research Maternal androgen excess induces cardiac hypertrophy and left ventricular dysfunction in female mice offspring
High levels of male hormones in pregnant mice cause heart enlargement and poor heart function in their female babies.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research ALOPECIA AREATA PROFILING SHOWS LNCRNAS REGULATE THE SUPPRESSED EXPRESSION OF KERATIN.
Certain RNAs may help diagnose alopecia areata by affecting keratin genes.
research Olmsted syndrome
Olmsted syndrome is a rare skin disorder causing thickened skin and other symptoms.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Correlating Cicatricial Alopecia and Cardiovascular Risk: Emerging Insights
People with Primary Cicatricial Alopecia have a higher risk of heart disease.
research Glucocorticoid Resistance Syndrome in 2 Patients With Diverse Genotype
Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
research Acrodermatitis Enteropathica
Acrodermatitis enteropathica is a rare inherited disorder causing skin issues, diarrhea, and hair loss.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Amphiregulin in Fibrotic Diseases and Cancer
Targeting amphiregulin may improve treatment for fibrotic diseases and cancer.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research Reviewer #2 (Public Review): CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research Role of Autonomic Dysfunction and Relation with Diastolic Dysfunction in Resistant Hypertensives
Autonomic dysfunction is common in hypertensives but may not cause diastolic dysfunction in resistant hypertension.
research Spatial Gene Profiling in the Ischemic Heart
A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Androgenetic alopecia: new insights into the pathogenesis and mechanism of hair loss
New model shows muscle affects hair loss differently in men and women.
research Referee report. For: Pathogenesis of Androgenetic alopecia [v1; indexed, http://f1000r.es/5ar]
Androgenetic alopecia may be irreversible due to the detachment of a muscle from hair follicles.
research AUTOSOMAL DOMINANT INHERITANCE OF ALOPECIA CONGENITA WITH KERATOSIS PALMO-PLANTARIS
research A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA
A specific genetic mutation causes POMC deficiency, leading to symptoms like weight gain and red hair.
research Disease Prevention and Alleviation by Human Myoblast Transplantation
Myoblast transplantation shows promise for treating various muscle and heart conditions.
research 056 IKZF1 and IKAROS overexpression contributes to the pathogenesis of alopecia areata
Too much IKZF1 and Ikaros protein may cause alopecia areata.
research Kawasaki disease: an update
Early treatment with immunoglobulin and aspirin reduces heart complications in children with Kawasaki disease.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research From hair to heart: nestin-expressing hair-follicle-associated pluripotent (HAP) stem cells differentiate to beating cardiac muscle cells
Hair follicle stem cells can become heart muscle cells.
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.