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660-690 / 1000+ resultsresearch Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A new genetic mutation was found causing hair and eye issues in a boy.
research Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research Serine palmitoyltransferase and peripheral neuropathy: studies on neuropathy-causing mutations and their biochemical hallmarks
Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
research Five year results of a prospective very low calorie diet or conventional weight loss programme in type 2 diabetes
The intensive conventional diet with exercise led to better long-term weight loss and health improvements than the very low calorie diet in obese type 2 diabetics.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research Trichodysplasia spinulosa: a polyomavirus infection specifically targeting follicular keratinocytes in immunocompromised patients
Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
research 031 Inducible skin-associated lymphoid tissue (iSALT) is detected in the scalp treated with topical immunotherapy for alopecia areata
Topical immunotherapy for alopecia areata may work by creating immune cell clusters in the skin.
research Vitamin D Receptor: New Assignments for an Already Busy Receptor
The vitamin D receptor is involved in multiple body functions beyond calcium regulation, including immune response and rapid reactions not related to gene activity.
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 Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
research Vascular Endothelial Growth Factor Is an Autocrine Growth Factor for Hair Dermal Papilla Cells
research Alopecia areata as a paraneoplastic syndrome of Hodgkin’s lymphoma: A case report
Alopecia areata can be an early sign of Hodgkin’s lymphoma and may improve with lymphoma treatment.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research K6irs1, K6irs2, K6irs3, and K6irs4 Represent the Inner-Root-Sheath-Specific Type II Epithelial Keratins of the Human Hair Follicle1
Four specific keratins in hair follicles help understand hair structure and function.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research Clinicopathological insights into the phenotypic variation of autosomal recessive hypotrichosis/wooly hair by c.736T>A LIPH mutation
The conclusion is that the variation in hair thinness in patients is mostly due to the amount of underdeveloped hairs, and treatments that thicken fine hairs might work for those with mild to severe conditions.
research CFTR potentiator ivacaftor protects against noise-induced hair cell loss by increasing Nrf2 and reducing oxidative stress
Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
research Complete hair regrowth in a patient with severe alopecia areata treated with deucravacitinib
Deucravacitinib led to full hair regrowth in a severe alopecia areata patient.
research Modeling using discriminant analysis of the possibility of occurrence and features of the course of various forms of urticaria in ukrainian women depending on the features of anthropo-somatotypological indicators
The models accurately predicted urticaria in Ukrainian women but struggled to differentiate between mild and severe cases based on body structure.
research A case of severe autoimmune hemolytic anemia after a receipt of a first dose of SARS‐CoV‐2 vaccine
An 84-year-old man developed severe anemia after his first COVID-19 vaccine shot, improved with treatment, and was advised against a second dose.
research VIRILISATION SECONDARY TO LEYDIG CELL OVARIAN TUMOR IN A POSTMENOPAUSAL WOMAN WITH PRIMARY HYPERPARATHYROIDISM
Postmenopausal women with unusual hair growth should be checked for ovarian tumors.
research Multiple iridociliary cysts in patients with mucopolysaccharidoses
Intralesional cidofovir may be a viable alternative treatment for SCC.
research Molecular expression associated with vibrissa follicle development and differentiation
Id proteins, especially Id2 and Id3, are crucial for hair follicle development and stem cell regulation.
research Ivarmacitinib stimulates hair regrowth in severe alopecia areata
Ivarmacitinib effectively regrows hair in severe alopecia areata.