research A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
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450-480 / 1000+ results research Congenital Generalized Hypertrichosis With a Copy Number Variation on Chromosome 17q24
A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
research The Case: Bilateral Kidney Tumors and Lung Cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Prolactin Signaling Influences the Timing Mechanism of the Hair Follicle: Analysis of Hair Growth Cycles in Prolactin Receptor Knockout Mice
Prolactin affects when mice shed and grow hair.
research The Noggin Null Mouse Phenotype Is Strain Dependent and Haploinsufficiency Leads to Skeletal Defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor
A specific gene mutation causes vitamin D-resistant rickets and hair loss.
research Skin Diseases Associated With Atopic Dermatitis
People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.
research Conversion of the Nipple to Hair-Bearing Epithelia by Lowering Bone Morphogenetic Protein Pathway Activity at the Dermal-Epidermal Interface
Blocking a specific protein signal can make hair grow on mouse nipples.
research The Functional Relevance of the Type 1 Cytokines IFN-γ and IL-2 in Alopecia Areata of C3H/HeJ Mice
IFN-γ and IL-2 are important for T cell activation in hair loss in mice.
research Prolactin Signaling Influences the Timing Mechanism of the Hair Follicle: Analysis of Hair Growth Cycles in Prolactin Receptor Knockout Mice
Prolactin affects when mice shed and grow hair.
research STIM1 R304W in Mice Causes Subgingival Hair Growth and Increased Trabecular Bone Fraction
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Molecular, Immunological, Enzymatic and Biochemical Studies of Coproporphyrinogen Oxidase Deficiency in a Family with Hereditary Coproporphyria
A new gene mutation causes hereditary coproporphyria with reduced enzyme activity.
research Genetic Susceptibility to Alopecia
Certain mutations in the PADI3 gene may increase the risk of developing a type of scarring hair loss common in women of African descent.
research Homologous Recombination Induced by Doxazosin Mesylate and Saw Palmetto in the Drosophila Wing-Spot Test
Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
research Congenital Generalized Hypertrichosis Terminalis with Gingival Hyperplasia and a Coarse Face: A Case Report
A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
research Spatial Gene Profiling in the Ischemic Heart
A new technology showed that the SOX9 gene might control heart scar formation after injury, suggesting new treatment possibilities.
research Functional Evaluation of Novel CYP21A2 Variants: Expanding the Genetic Basis of Non-Classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research A Rare Case of Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets
A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research A Case of Glucocorticoid Resistance Syndrome
The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
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 Ichthyosiform Erythroderma: A Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research A Direct Link Between Prss53, Hair Curvature, and Skeletal Dysplasia
The gene Prss53 affects hair shape and bone development in rabbits.
research Severe Thiopurine-Induced Myelotoxicity and Hair Loss in Japanese Patients with NUDT15 Gene Variant: A Retrospective Case-Control Study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Copper Loading Studies in Brindled Mouse Hemizygotes and Heterozygotes
Copper treatments increase copper in all tissues, but brindled female mice accumulate much more copper in their kidneys without clinical effects, unlike brindled male mice where brain copper deficiency is clinically significant.
research Association of Myotonic Dystrophy with Autoimmune Endocrinopathies and Thyroid Carcinoma
A patient with myotonic dystrophy had several autoimmune disorders and thyroid cancer, suggesting a possible link between these conditions.
research Expression of Foxi3 Is Regulated by Ectodysplasin in Skin Appendage Placodes
Foxi3 expression in developing teeth and hair is controlled by the ectodysplasin pathway.
research Riboflavin-Responsive Glutaryl CoA Dehydrogenase Deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research Treatment of Alopecia Areata with Anti-Interferon-Gamma Antibodies
Blocking interferon-gamma helps prevent and treat hair loss in Alopecia Areata.
research 5α-Reductase Type 2 Gene Variant Associations with Prostate Cancer Risk, Circulating Hormone Levels, and Androgenetic Alopecia
Gene variant linked to prostate cancer, hormone levels, and hair loss.