research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
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research Μελέτη των πολυμορφισμών IΙe 49 Ser του γονιδίου της αντιμυλλεριανικής ορμόνης (ΑΜΗ) ΚΑΙ 482 Α>G του υποδοχέα τύπου ΙΙ της αντιμυλλεριανικής ορμόνης (AMHR) σε γυναίκες με σύνδρομο των πολυκυστικών ωοθηκών (PCOS)
The AMHR2-482A>G gene change is linked to higher PCOS risk.
research A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
The new model helps understand and develop treatments for genetic skin disorders like AEC.
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 Keratins and skin disease
Keratin mutations cause skin diseases and could lead to new treatments.
research Supplementary Material for: Polymorphic CAG Repeat Numbers in the Androgen Receptor Gene of Female Pattern Hair Loss in a Han Chinese Population
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
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 409 ANDROGEN RECEPTOR GENE POLYMORPHISM (SNP RS6152) – ITS RELATIONSHIP TO ANDROGEN-SENSITIVE GENES EXPRESSION IN BENIGN PROSTATIC HYPERPLASIA, CARCINOMA OF THE PROSTATE AND ANDROGENETIC ALOPECIA
Gene variation affects prostate issues and hair loss.
research The mouse hairy ears mutation exhibits an extended growth (anagen) phase in hair follicles and altered Hoxc gene expression in the ears
The mouse hairy ears mutation causes longer ear hair due to changes in gene expression.
research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
research Birt–Hogg–Dubé syndrome
Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.
research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
research The disrupted balance between hair follicles and sebaceous glands inHoxc13‐ablated rabbits
Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
research Frontal Fibrosing Alopecia: A Comprehensive Review with Recent Updates
Frontal fibrosing alopecia is a challenging hair loss condition with no known cause or definitive treatment.
research Expression of caspase-14 and keratin-19 in the human epidermis and appendages during fetal skin development
research Expression of enhancing factor/phospholipase A2 in skin results in abnormal epidermis and increased sensitivity to chemical carcinogenesis
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research Regulatory role of LEF-1 in the proliferation of Arbas White Cashmere goat dermal papilla cells
LEF-1 boosts cell growth in goat hair follicles, aiding cashmere production.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Fast Motions in 5 Alpha Reductase and Its Impact on Enzyme Kinetics
The study investigates the catalytic mechanism of steroid 5α-reductase type 2 (SRD5A2), focusing on the dynamic interactions among residues that affect enzyme kinetics. Using QM/MM simulations, it was found that residues Tyr33 and L224 compress the donor, altering free energy barriers and supporting the preorganization theory. Additionally, six other residues (Trp53, Arg94, Cys119, Glu197, Phe223, and Arg227) form a network that stabilizes transition states through electrostatic and structural interactions. The L224P mutant analysis shows that losing L224 compression increases energy barriers by 3.3-3.4 kcal/mol, highlighting the importance of dynamic and electrostatic coordination for efficient catalysis.
research The Region Coding for the Helix Termination Motif and the Adjacent Intron 6 of the Human Type I Hair Keratin Gene hHa2 Contains Three Natural, Closely Spaced Polymorphic Sites
research Growth retardation and hair loss in transgenic mice overexpressing human H-ferritin gene
Overexpressing the human H-ferritin gene in mice causes mild growth delay and temporary hair loss.
research Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Genomic and transcriptomic landscape to decipher the genetic basis of hyperpigmentation in Lanping black-boned sheep (Ovis aries)
Two genes, ERBB4 and ROR1, may cause the unique pigmentation in Lanping black-boned sheep.
research Molecular basis of androgen insensitivity
Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
research Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs
The MLPH gene is not linked to seasonal hair loss in Rhodesian Ridgeback dogs.