research Molecular Basis of Hereditary Hair Diseases
Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
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960-990 / 1000+ results research SUN-332 A Rare Case Of Hereditary 1,25 (OH)2D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research The Impact of GLP-1 Receptor Agonists on Hair: Beneficial Effects or Adverse Outcomes?
GLP-1 receptor agonists may help or harm hair health, needing more research.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research Molecular Genetics of Inherited Disorders of Epidermal Keratins
Mutations in keratin genes cause skin disorders, but new treatments show promise.
research Protective mitophagy in human hypoxic cardiomyocytes: mechanistic insights into SGLT2 inhibitor Dapagliflozin cardioprotection in ischemic injury
Dapagliflozin helps protect heart cells under stress by improving mitochondrial function and reducing cell damage.
research A homozygous single T deletion found in the GGCX gene with PXE-like phenotypes
A gene mutation worsens skin irritation in mice due to a lack of certain fats.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed
Lykoi cats' unique sparse hair is linked to specific genetic variants in the Hairless gene.
research Porphyria Cutanea Tarda in a Patient With Agnogenic Myeloid Metaplasia
Porphyria cutanea tarda causes skin issues due to an enzyme deficiency.
research 1329 Transglutaminase 2 deficiency leads to lipid accumulation and reduced autophagy in SZ95 sebocytes
Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
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 Clinical case of manifestation of toxic keratitis with vitamin A intoxication
Excessive vitamin A intake can cause eye damage, but recovery is possible with proper treatment.
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research Adverse Events Associated with Azathioprine Treatment in Korean Pediatric Inflammatory Bowel Disease Patients
Azathioprine caused side effects in over half of the Korean pediatric inflammatory bowel disease patients, requiring close monitoring.
research NG2 Proteoglycan Expression in Mouse Skin: Altered Postnatal Skin Development in the NG2 Null Mouse
NG2 is crucial for normal skin and hair development in mice.
research Insulin Resistance and Skin Diseases
Insulin resistance may contribute to various skin diseases and treating it could improve skin health and prevent more serious conditions.
research Median lingual hair heterotopia associated with pyogranulomatous glossitis in a Labrador retriever: Surgical treatment using carbon-dioxide laser.
Surgery with a carbon-dioxide laser successfully treated a Labrador's tongue condition, but some hair regrew.
research Hyperammonemic encephalopathy without hepatic dysfunction due to treatment with valproate: four cases and a mini review
Valproate can cause brain swelling with high ammonia levels, possibly underreported, especially in psychiatric patients.
research Hair-Specific Keratins: Characterization and Expression of a Mouse Type I Keratin Gene
research Men with Kennedy disease have a reduced risk of androgenetic alopecia
Men with Kennedy disease have less chance of hair loss.
research Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Potassium channel openers: pharmacological and clinical aspects
Potassium channel openers could help treat cardiovascular diseases and asthma but require better targeting to specific tissues for effective use.
research A failure to relax.
The man had myotonia, which caused delayed hand grip relaxation.
research [Trichothiodystrophy: a morphological and biochemical study].
Trichothiodystrophy involves brittle hair due to low sulfur amino acids, not a transport defect.
research Anticonvulsant hypocalcaemia.
Long-term use of seizure medications can disrupt calcium metabolism, but this can be treated with vitamin D or UV light and does not affect seizure control.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.