research Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
FGF5 gene mutations cause long hair in domestic cats.
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390-420 / 1000+ resultsresearch Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Clinical profile of female patients with chronic telogen effluvium and its association with serum ferritin level
Low iron levels may be linked to hair loss in women with chronic telogen effluvium.
research Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
research Polymorphism of CAG and GGN repeats of androgen receptor gene in women with polycystic ovary syndrome
Longer GGN repeats in the androgen receptor gene are linked to polycystic ovary syndrome.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Conflicting Auxin-Phosphate Signals Impact on RSL2 Expression and ROS-Homeostasis Linked to Root Hair Growth in Arabidopsis
Auxin helps root hairs grow in high phosphate by affecting ROS and involving RSL2 and RSL4.
research Diagnosed with primary adrenal insufficiency? search adrenoleukodystrophy-two brothers presented with similar phenotype
Two brothers from Bangladesh were diagnosed with X-linked adrenoleukodystrophy, showing neurological and adrenal symptoms.
research Non‐endocrine alopecia
The document concludes that non-endocrine alopecia in pets varies in treatment effectiveness and often has a poor prognosis, especially in cats.
research The X Factor in Immunity: Sex Differences Shaped by the X Chromosome
Females generally have stronger immune responses than males due to the X chromosome.
research Drugs linked to blepharitis, meibomian gland dysfunction, and chalazion: a real-world, population-based pharmacovigilance analysis
Certain drugs can cause eyelid inflammation, so doctors should monitor and educate patients on eyelid care.
research Alopecia areata masquerading as frontal fibrosing alopecia
Alopecia areata can look like frontal fibrosing alopecia, making diagnosis hard.
research Frontal Fibrosing Alopecia and the Role of Cosmeceuticals in Its Pathogenesis
Cosmeceuticals like sunscreens may trigger frontal fibrosing alopecia, but more research is needed.
research Novel <b><i>ABCD1</i></b> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
research Estimation of Claudin 3 in the Sreum of Alopecia Areata Patients and Its Association with Disease Severity
Higher Claudin 3 levels in the blood are linked to more severe alopecia areata.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research 'The Cry of the Children': The Edwardian Medical Campaign Against Maternal Drinking
Doctors linked maternal drinking to infant mortality and national decline, leading to public awareness and changes in law.
research Ligand‐independent Regulation of the hairless Promoter by Vitamin D Receptor†
Vitamin D receptor can control the hairless gene linked to hair loss even without vitamin D.
research 'The Cry of the Children' : The Edwardian Medical Campaign Against Maternal Drinking
The Edwardian medical campaign linked maternal drinking to infant mortality and national decline, influencing hygiene education and leading to a ban on children under 14 from pubs.
research Congenital erythropoietic porphyria five years observation with standard treatment: a case report
Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
research Androgenetic alopecia in adolescents: A report of 43 cases
Teen hair loss common in boys, linked to family history and mild symptoms.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research FOXN1 deficient nude severe combined immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research Lichen planus
Lichen planus is a skin condition that can resolve on its own, is linked to hepatitis C, and increases the risk of skin cancer.
research Pattern Baldness: Its Genetics Revisited
Pattern baldness is likely caused by a dominant gene influenced by testosterone levels, making it more common in men.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research Clinical Case Notes. Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome
The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.