research HAIR DEPIGMENTATION AND DERMATITIS – AN UNEXPECTED PRESENTATION OF CYSTIC FIBROSIS
Cystic fibrosis can cause unusual symptoms like hair color changes, which can improve with proper treatment.
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research Serum Paroxonase 1 Level and Androgenetic Alopecia: Correspondence
PON1 levels might indicate hair loss severity, but other health factors can affect this.
research Deimination in epidermal barrier and hair formation
Enzymes that change arginine to citrulline are important for skin barrier and hair formation, and their malfunction can lead to skin conditions and hair disorders.
research Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement
The patient's hair improved after treatment, but the genetic link is unclear.
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Poxvirus and Toxoplasma gondii co-infection in a free-ranging Paraguayan hairy dwarf porcupine (Coendou spinosus), Brazil
Neotropical porcupines can get co-infected with poxvirus and Toxoplasma gondii.
research A Case of Hemi‐Isaac's Syndrome
A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
research Congenital atrichia with papular lesions
Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
research Pilomatricoma in Syndromic Contexts: A Literature Review and a Report of a Case in Apert Syndrome
Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
research Characterisation of low abundance wool proteins through novel differential extraction techniques
New techniques helped identify rare wool proteins by reducing dominant ones.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Novel KRT 83 and KRT 86 mutations associated with monilethrix
New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
research Beyond anemia: a comprehensive analysis of iron deficiency symptoms in women and their correlation with biomarkers
Iron deficiency causes many symptoms, and transferrin saturation is a better diagnostic marker than hemoglobin.
research Dysfunction of keratinocyte adhesion
Keratinocyte adhesion problems can cause skin and hair disorders.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus: Is nomenclature “porokeratotic adnexal ostial nevus” more appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Missense mutation Y449H of the K10 gene in a patient with severe epidermolytic ichthyosis
A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
research Devices and genomic therapies
The document's conclusion cannot be provided because the document is not readable or understandable.
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 Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
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 Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.