research Expansion of the Spectrum of ITGB6-Related Disorders to Adolescent Alopecia, Dentogingival Abnormalities, and Intellectual Disability
A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
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research Prognosis and Management of Congenital Hair Shaft Disorders with Fragility—Part I
Some congenital hair disorders improve in childhood or with treatments like minoxidil and retinoids, while others like Netherton syndrome and trichothiodystrophy have a poor prognosis.
research Computational Derivation of a Molecular Framework for Hair Follicle Biology from Disease Genes
The research provides a gene-based framework for hair biology, highlighting the Hippo pathway's importance and suggesting links between hair disorders, cancer pathways, and the immune system.
research Analysis of Hidradenitis Suppurativa-Linked Mutations in Four Genes and the Effects of PSEN1-P242LfsX11 on Cytokine and Chemokine Expression in Macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
research Perturbations in Fatty Acid Metabolism and Collagen Production Infer Pathogenicity of a Novel MBTPS2 Variant in Osteogenesis Imperfecta
A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
research Clonal Analysis of Stem Cells in Differentiation and Disease
New techniques have enhanced our understanding of how stem cells function and the role of mutations in aging tissues, which may influence future cancer therapies.
research The Genetics of Autism and Steroid-Related Traits in Prenatal and Postnatal Life
Autism's genetics are linked with early age of puberty and less hair loss, but not with hormone levels or polycystic ovary syndrome.
research Exploiting the Origins of Ras-Mediated Squamous Cell Carcinoma to Develop Novel Therapeutic Interventions
Researchers found that hair follicle stem cells can become squamous cell carcinoma due to Ras activation, which could lead to new treatments.
research Premature Aging Syndromes: From Patients to Mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research Tracing the Cellular Origin of Cancer
Understanding where cancer cells come from helps create better prevention and treatment methods.
research The Disrupted Balance Between Hair Follicles and Sebaceous Glands in Hoxc13-Ablated Rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Autoimmune Polyendocrine Syndrome Type 1: An Italian Survey on 158 Patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Diagnostic Approach to Low-Renin Hypertension
Recent genetic insights show that low-renin hypertension includes a range from essential hypertension to secondary or familial forms, affecting diagnosis and treatment.
research Spontaneous Quick Resolution of Uncombable Hair Syndrome-Like Disease
A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
research Nagashima-Type Palmoplantar Keratosis: A Common Asian Type Caused by SERPINB7 Protease Inhibitor Deficiency
Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
research Gene Expression Profile of Human Follicle Dermal Papilla Cells in Response to Camellia Japonica Phytoplacenta Extract
Camellia japonica extract may improve scalp health and promote hair growth.
research Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Structural Mechanism of TRPV3 Channel Inhibition by the Plant-Derived Coumarin Osthole
Osthole inhibits the TRPV3 channel by binding to specific sites, potentially aiding drug development for skin diseases and cancers.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research TRPV3 Ion Channel: From Gene to Pharmacology
The TRPV3 ion channel is important for skin and hair health and could be a target for treating skin conditions.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Painful Thickened Skin on the Soles of the Feet
The man has a genetic skin condition called pachyonychia congenita.
research Genetics of Hidradenitis Suppurativa
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Deficiency of the Human Cysteine Protease Inhibitor Cystatin M/E Causes Hypotrichosis and Dry Skin
Not having enough cystatin M/E protein causes less hair growth and dry skin.
research Mutational Spectrum in 101 Patients with Hypohidrotic Ectodermal Dysplasia and Breakpoint Mapping in Independent Cases of Rare Genomic Rearrangements
Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
research Evolution And Genetic Architecture Of Sex-Limited Polymorphism In Cuckoos
Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
research Fatal Autoimmunity Results from the Conditional Deletion of Snai2 and Snai3
Deleting Snai2 and Snai3 causes fatal autoimmunity.
research VEGF Upregulates VEGF Receptor-2 on Human Outer Root Sheath Cells and Stimulates Proliferation Through ERK Pathway
VEGF stimulates hair cell growth and increases growth receptor levels through a specific signaling pathway.