research Biochemical features of primary cells from a pediatric patient with a gain-of-function ODC1 genetic mutation
A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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390-420 / 1000+ resultsresearch Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
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 1392 Dkk4 regulates Wnt-dependent hair formation and pattern
Dkk4 protein helps control how hair grows and its arrangement.
research Disorders of Sex Development
DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
research Synthesis of 11α-hydroxyprogesterone hartens
Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
research 1360 Fate tracing of DNA-damaged hair follicle stem cells and their seno-differentiation clearance out of the niche
Damaged hair follicle stem cells may leave the skin to help maintain youthfulness.
research Fine Mapping and Identifying the Mutation Gene of snthr -1Bao ScantHair Mouse
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
research A Rare Case Report of Congenital Adrenal Hyperplasia: 46XX at Tertiary Care Centre, Visnagar, North Gujarat.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
research Hdac1 and Hdac2 regulate the quiescent state and survival of hair-follicle mesenchymal niche
Hdac1 and Hdac2 help maintain and protect the cells that control hair growth.
research Ciencia, tecnología y sociedad, materia optativa de bachillerato
Cholesterol issues in skin and hair may cause permanent hair loss by triggering inflammation.
research Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia
Giving a special protein to dogs with a certain genetic disease improved their symptoms but didn't help with hair growth.
research Identification of Ectodysplasin Target Genes Reveals the Involvement of Chemokines in Hair Development
Chemokine signaling is important for hair development.
research The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD)
Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
research DEVELOPING AND VALIDATING AN HPLC METHOD TO QUANTIFY SIMULTANEOUSLY DUTASTERIDE AND THEIR RELATED MOLECULES (DUTASTERIDE ACID, 2,5 BIS- (TRI FLUORO METHYL)-ANILINE AND DUTASTERIDE 17 α-EPIMER) IN CAPSULES
A reliable method was created to measure dutasteride and related molecules in capsules.
research Diphencyprone Induced Vitiligo: A Case Report
Diphencyprone can cause unexpected and possibly permanent vitiligo.
research Thiadiazole chitosan conjugates as a novel cosmetic ingredient for rinse-off hair conditioners: design, formulation, characterization and in silico-molecular docking studies
Thiadiazole chitosan conjugates improve hair manageability, moisture, and protection in conditioners.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis
Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
research Inhibition of CISD1 attenuates cisplatin-induced hearing loss in mice via the PI3K and MAPK pathways
Blocking CISD1 reduces hearing loss from cisplatin in mice.
research In vitro 3D organotypic hair follicle-model for high-throughput substance testing
The 5050 MHA42MCS45 hydrogel blend is suitable for repairing load-bearing soft tissues.
research Delayed-onset pachyonychia congenita caused by a novel mutation in the V2 domain of keratin 6b
A new mutation in the K6b gene caused a girl's late-appearing nail condition.
research Congenital dyserythropoietic anaemia and dyskeratosis in Australian Poll Hereford calves
Two Australian Poll Hereford calves had severe anaemia, abnormal red blood cells, and skin issues.
research Dab2 (Disabled-2), an adaptor protein, regulates self-renewal of hair follicle stem cells
Dab2 protein is crucial for hair follicle stem cell renewal and preventing early aging.
research DETERMINATION OF FINASTERIDE AND RELATED COMPOUNDS BY REVERSED-PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY. I. CHOOSING THE MOBILE PHASE COMPOSITION
Best results found using acetonitrile, water, and trifluoroacetic acid or methanol mixture.
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Decision letter: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction in vivo
CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
research SUN-305 Hair Cortisol Measurement: An Innovative Method for Diagnosis and Follow-Up in Patients with Cushing’s Disease
Hair cortisol measurement can help diagnose and monitor Cushing’s disease.