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research Sulfotransferases, sulfatases and formylglycine-generating enzymes: a sulfation fascination
The document concludes that understanding sulfation biology is crucial for creating treatments due to its importance in biological functions and disease.
research Testosterone replacement in 49,XXXXY syndrome: andrological, metabolic and neurological aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Scleroderma and L-tryptophan: A possible explanation of the eosinophilia-myalgia syndrome
Taking L-tryptophan supplements might cause a condition similar to scleroderma in some people, which can get better after stopping the supplement and starting corticosteroid therapy.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
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 Correction: Comment on “The post-finasteride syndrome: possible etiological mechanisms and symptoms”
The author had undisclosed conflicts of interest related to the original article on post-finasteride syndrome.
research Functional redundancy of Frizzled 3 and Frizzled 6 in planar cell polarity control of mouse hair follicles
Frizzled 3 and Frizzled 6 together control the orientation of mouse hair follicles.
research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
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 Referee report. For: Case Report: Extensive digital gangrene as a primary manifestation of late-onset systemic lupus erythematosus [version 2; peer review: 1 approved]
Digital gangrene can be an early sign of late-onset systemic lupus erythematosus.
research Finasteride-induced recurrent aphthous ulceration–like lesions: a case report with dechallenge–rechallenge confirmation
Finasteride can cause recurrent mouth ulcers.
research Feronia: A malectin-like domain-containing receptor kinase in Arabidopsis thaliana insights into polarized cell growth, pollen tube - Pistil interactions, and sugar signaling
FERONIA regulates plant growth, pollen interactions, and sugar signaling.
research Zinc-responsive Acral Hyperkeratosis as a Sequele of Acrodermatitis Enteropathica
Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
research 증례 : 모발의 황 농도 감소를 보인 모발유황이영양증
A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research A case of lupus miliaris disseminatus faciei after allogeneic hematopoietic stem cell transplantation
A man developed facial skin lesions after a stem cell transplant, which improved with specific treatments.
research Diffuse hypotrichosis from early childhood
The girl has a genetic hair condition causing thin hair since childhood.
research Clouston syndrome: A complete genotype–Phenotype correlation after four decades and six generations
Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Metabolic syndrome in androgenetic alopecia patients; Is serum regulated on activation, normal T‐cell expressed and secreted the missing link?
Possible link between hair loss and metabolic syndrome, with RANTES as a potential clue.
research NRF2 coordinates ferroptosis and disulfidptosis in dermal papilla cells via redox metabolic reprogramming in androgenetic alopecia
research MON-194 A Case Of Sertoli Cell Tumor In A Patient With Familial Partial Lipodystrophy Type 2
A rare ovarian tumor was found in a young woman with a genetic fat disorder.
research A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females
A genetic region near the PAX1 gene is linked to a higher risk of scoliosis in females.
research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
research Erythromelanosis Follicularis Faciei et Colli: A Case Report in a Caucasian Male and Brief Review of the Literature
A rare skin condition causes red, dark, bumpy facial lesions.
research MON-080 Cushing Disease Secondary To Rathke’s Cleft Cyst
Rathke’s cleft cysts can rarely cause Cushing disease, and surgery can improve symptoms.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research Keratosis Follicularis Spinulosa Decalvans
KFSD is a rare condition causing scarring hair loss, with no effective treatment known at the time of the report.