research Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair
Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
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960-990 / 1000+ resultsresearch Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Ceramide synthase 4 is involved in the regulation of hair follicle stem cell homeostasis
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research 218 Chemokine receptor CCR5 is the novel target for the treatment of alopecia areata
Blocking the CCR5 receptor may be a new way to treat hair loss from alopecia areata.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research Idiopathic unilateral facial hirsutism
A woman had unusual hair growth on one side of her chin without a known cause.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Acquired epidermodysplasia verruciformis in a heart transplant patient
A heart transplant patient developed a skin condition called epidermodysplasia verruciformis after taking immune-suppressing drugs.
research 0877 Activated wound phenotype and microbial dysbiosis are driven by AhR suppression in hidradenitis suppurativa tunnels
Reduced AhR signaling in HS tunnels leads to persistent inflammation and microbial imbalance.
research The Case ∣ Fever, rash, and positive Ehrlichia antibodies
The woman was diagnosed with systemic lupus erythematosus (SLE) after initial misdiagnosis and improved with proper treatment.
research Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
Monilethrix severity varies and may be influenced by other genetic or environmental factors.
research Frequency of neuro-psychiatric dysfunction in anti-SSA/SSB exposed children with and without neonatal lupus
Anti-Ro exposed children had more reported neuro-psychiatric issues, but differences from healthy controls were not significant.
research Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
A mutation in the KRT74 gene causes tightly curled hair.
research Proliferative, lymphocytic, infundibular mural folliculitis and dermatitis with prominent follicular apoptosis and parakeratotic casts in four L abrador retrievers: preliminary description and response to therapy
A new skin disease in four Labrador retrievers responded well to immunosuppressive treatment.
research X linked mental retardation.
X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Acneiform eruptions caused by an epidermal growth factor receptor-tyrosine kinase inhibitor ZD 1839
ZD1839, a cancer drug, can cause mild skin rashes that are treatable without stopping the medication.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research A Rare Case of Antinuclear Antibody-Negative Systemic Lupus Erythematosus Presenting With Generalized Lymphadenopathy as the Initial Manifestation
A 16-year-old girl with lupus symptoms improved with treatment despite negative ANA tests.
research Biologics and Small Molecule Targeted Therapies for Pediatric Alopecia Areata, Psoriasis, Atopic Dermatitis, and Hidradenitis Suppurativa in the US: A Narrative Review
Biologics and targeted therapies could improve treatment for children with certain chronic skin conditions.
research RGB video microscopic system for in-vitro monitoring of optical properties of hair shaft and follicle
The system helps monitor hair properties using RGB video microscopy.
research Multiple, hereditary dome-shaped papules and acrochordons. Birt-Hogg-Dube syndrome
The boy likely has a fungal infection causing hair loss.
research Isolation and Molecular Cloning of Epidermal- and Hair Follicle-Specific Peptidylarginine Deiminase (Type III) from Rat
PAD type III enzyme is specific to rat skin and hair follicles.
research Clinical report of a Holstein's calf with ichthyosis.
A Holstein calf in Iran with a severe genetic skin disorder was euthanized due to incurable symptoms.
research Expression of a truncated form of hHb1 hair keratin in human breast carcinomas
Truncated hHb1 keratin may play a role in breast cancer cell transformation.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research lncRNA2919 Suppresses Rabbit Dermal Papilla Cell Proliferation via trans-Regulatory Actions
lncRNA2919 slows down rabbit hair growth by stopping cell growth and causing cell death.