research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
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330-360 / 1000+ resultsresearch Becker's Nevus Syndrome
Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Expression and localization of A rtemis serine 516 phosphorylation in human scalp skin
Artemis phosphorylation at Ser516 may help regulate skin and hair structures.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research Three-dimensional ultrastructural analysis of human skin with the arrector pili muscle interacting with the hair follicle epithelium
The method effectively analyzes skin tissue changes, especially in the arrector pili muscle and nerve fibers with hair follicles.
research Pilomatricoma in the neck of an adult male
A man had a non-cancerous neck tumor related to hair follicles removed with no return of the tumor.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Acidic and basic hair/nail ("hard") keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to "soft" keratins.
Hair and nail cells share similar proteins, indicating a common differentiation pathway.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
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 J. Cosmet. Sci., 59, 263–289 (July/August 2008) Characterization of curved hair of Japanese women with reference to internal structures and amino acid composition
Japanese women's curved hair has an uneven internal structure and varied amino acid composition.
research A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research Polymorphism of Exon V of prolactin gene and its association with Cashmere traits in Changthangi Pashmina goats
The prolactin gene polymorphism doesn't affect cashmere quality in these goats.
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Syringolymphoid hyperplasia with alopecia and anhidrosis in a 12‐year‐old boy: a case report from rural south India
A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
research Monilethrix: A case report imaged by trichoscopy, reflectance confocal microscopy and histopathology
Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
research Lead-revealed lipid organization in human hair
Lead can help reveal and organize lipids in human hair.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research [Two cases of the rare Cronkhite-Canada syndrome].
Two patients with Cronkhite-Canada syndrome achieved remission after treatment.
research A forgotten and hidden disease
The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
research Trichohyalin, an intermediate filament-associated protein of the hair follicle.
Trichohyalin is a protein in hair follicles that helps form hair filaments.
research Malignant appearance of trichilemmal cyst: a case report with review of the literature
A man's neck lump was a trichilemmal cyst, not cancer, and should be fully removed due to rare risk of becoming malignant.
research Cytochemistry of Trichohyalin Granules: A Possible Role for Cornification of Inner Root Sheath Cell in the Hair Follicle
Trichohyalin granules help inner root sheath cells in hair follicles harden by integrating with keratin filaments.
research Staining of human skin with RGB trichrome unveils a proteoglycan-enriched zone in the hair dermal sheath
A new staining method shows a special area in the hair's skin layer with lots of proteoglycans.
research Existence of various structural zones in keratinous tissues revealed by X-ray microdiffraction
Keratinous tissues have multiple structural layers, including ordered keratin and lipid granules.
research Corneodesmosin: Structure, Function and Involvement in Pathophysiology
Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.