research Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity
Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
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450-480 / 1000+ results research Widespread porokeratotic adnexal ostial nevus: Clinical features and proposal of a new name unifying porokeratotic eccrine ostial and dermal duct nevus and porokeratotic eccrine and hair follicle nevus
The term "porokeratotic adnexal ostial nevus" is proposed to unify overlapping skin conditions involving eccrine and hair follicles.
research Follicular mucinosis: A detailed morphologic and immunopathologic study
Benign follicular mucinosis involves immune cells attacking hair follicles.
research Skin manifestations of Bardet–Biedl syndrome
Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
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 An Exploratory Review of Madhuka Taila Prati Marsha Nasya in Akala Palitya - Premature Greying of Hair
Modern lifestyle factors like stress and pollution cause premature greying of hair.
research Mesenchymal Stem Cells With Modification of Junctional Adhesion Molecule A Induce Hair Formation
Modified stem cells that overexpress a specific protein can improve hair growth and reduce hair abnormalities in mice.
research Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
research Síndrome de ovario poliquístico: la distancia anogenital como marcador del entorno androgénico prenatal y revisión y comparación de los criterios diagnósticos
Longer anogenital distance may indicate a higher chance of having polycystic ovary syndrome, and measuring this distance along with hormone levels could improve diagnosis.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Follicular dysplasia in two cows
Two cows had a rare hair disorder causing hair loss but were otherwise healthy.
research Androgenetic Alopecia as a Marker of Metabolic Syndrome
Balding in men might indicate a higher risk of metabolic health issues.
research Two females with hair loss
A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
research Sterile matrix grafting for onycholysis in the setting of valproic acid use
Surgical grafting may fix nail issues caused by valproic acid.
research Disturbed Keratinocyte Differentiation in Transgenic Mice and Organotypic Keratinocyte Cultures as a Result of Spermidine/Spermine N1-Acetyltransferase Overexpression
Overexpression of SSAT causes hair loss and skin issues, but reducing putrescine can help.
research Transcriptome analysis of frontal fibrosis alopecia revealed involvement of immune cells and ferroptosis
The research suggests that immune cells and a specific type of cell death called ferroptosis are involved in Frontal fibrosis alopecia.
research The repairing of full-thickness skin deficiency and its biological mechanism using decellularized human amniotic membrane as the wound dressing
Human amniotic membrane helps heal skin wounds faster and with less scarring.
research An Observational Study on Association between Alopecia Areata and Systemic Disorders —A Clinical Correlation
Alopecia areata is more common in males, often appears as patchy hair loss, and is strongly linked to anemia.
research Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
Mutating the gmds gene in zebrafish increases hair cell numbers and regeneration.
research Kartagener Syndrome With Ectodermal Anomalies in An Adolescent Female: A Case Report
A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
research Alopecia Mucinosa
Alopecia mucinosa is a challenging condition with unclear diagnosis and treatment.
research Undifferentiated connective tissue disease presenting with vascular pattern of renal amyloidosis with carpel tunnel syndrome: A case report
A woman with undifferentiated connective tissue disease was diagnosed with renal amyloidosis and carpal tunnel syndrome.
research Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Msx2 deficiency in mice leads to bone growth and organ development problems.
research 212 DISTURBANCES OF REPRODUCTIVE FUNCTION IN WOMEN WITH PITUITARY ADENOMA
Women with pituitary adenomas often have reproductive issues, like irregular periods and trouble getting pregnant, but not always breast milk production without pregnancy.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Loose anagen syndrome in one identical twin girl
One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research MLO-mediated Ca2+influx regulates root hair tip growth in Arabidopsis
MLO proteins are crucial for root hair growth by regulating calcium and ROS levels.
research 268 Male-pattern baldness and its association with coronary heart disease
Male-pattern baldness has a weak link to heart disease and some related health conditions.