research Photosensitive Trichothiodystrophy with Complex Cerebral Abnormalities
Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
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330-360 / 1000+ resultsresearch A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia.
A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
research Six SNPs and a TTG indel in sheep desmoglein 4 gene are in complete linkage disequilibrium
Seven genetic variations in sheep's DSG4 gene are linked and affect wool traits.
research 2,3,7,8‐Tetrachlorodibenzo‐p‐dioxin causes an increase in protein kinases growth hepatic associated with epidermal factor receptor in the plasma membrane
TCDD reduces EGF receptors in the liver, affecting growth and development.
research Acrodermatitis enteropathica‐like skin eruption with neonatal seizures in a child with biotinidase deficiency
Early diagnosis and biotin treatment are crucial for infants with biotinidase deficiency to prevent severe complications.
research Editing Shading Effects in a Single Hair Image Considering Occlusion Between Hair Fibers
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research Pelage and molt in the black-tailed deer (Odocoileus hemionus (Rafinesque))
Black-tailed deer have four types of pelages and molt twice a year.
research Biotinidase Enzyme Deficiency ( Case Report )
A rare biotin deficiency in an Iraqi family caused severe symptoms but was successfully treated with lifelong biotin.
research Multisystemic eosinophilic epitheliotropic disease in a horse in Brazil
A horse in Brazil with skin and gut issues was diagnosed with a severe disease and had to be euthanized.
research Anti‐keratin Monoclonal Antibody against Basal Cell Epithelioma Keratin: BKN‐1
BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
research Junctional Epidermolysis Bullosa, Generalized Intermediate Type
research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
research The Development of BL 7660 as an Anti‐Acne Agent
BRL 7660, once studied for male contraception, showed promise as an acne treatment but was not developed further due to competing drugs.
research Intracrinology and The Skin
DHEA stimulates skin oil glands and could help postmenopausal women, with potential for acne and excessive hair growth treatments.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research 574 A deep learning classifier for the analysis of tiger tail banding in trichothiodystrophy
A deep learning model was developed to help diagnose trichothiodystrophy by analyzing hair patterns.
research Application of 2-Chloro-7-Nitrobenzo-2-Oxa-1, 3-Diazol (NBDCL) for Spectrophotometric Determination of Finasteride in Pharmaceutical Formulation
A new method using NBD-CL can accurately and precisely measure finasteride in medicine, and could be used regularly for quality control in the industry.
research Bimatoprost
research Newborn screening for biotinidase deficiency: pilot study and follow-up of identified cases
Newborn screening for biotinidase deficiency is effective in preventing severe complications.
research Hair Growth Promoting Effect of Black Soybean Extract In Vitro and In Vivo
Black soybean extract helps promote hair growth and could prevent hair loss.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Steroid 17β-hydroxysteroid dehydrogenase deficiency in man: An inherited form of male pseudohermaphroditism
Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
research Boron deficiency responses in maize (Zea mays L.) roots
Boron deficiency in maize affects leaf boron levels and nutrient uptake differently depending on root hair presence and soil type.
research Identification of dkk4 as a target of Eda-A1/Edar pathway reveals an unexpected role of ectodysplasin as inhibitor of Wnt signalling in ectodermal placodes
Ectodysplasin inhibits Wnt signaling to help form hair follicles.
research Effect of Hataedock Treatment on Epidermal Structure Maintenance through Intervention in the Endocannabinoid System
Hataedock treatment improved skin health and reduced atopic dermatitis symptoms by enhancing the skin barrier and reducing inflammation.
research Ehlers-Danlos syndrome: From bedside to bench
Comprehensive genetic testing and international collaboration are crucial for better understanding and managing Ehlers-Danlos syndromes.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research Finasteride.
research 3a-Phenylhexahydropentalene-1,6-dione
A rigid compound with a common structural motif was successfully synthesized.
research Pigmentation Effect of Rice Bran Extract in Hair Follicle-Like Tissue and Organ Culture Models
Rice bran extract boosts melanin production in hair follicles.