research Premature aging and cancer development in transgenic mice lacking functional CYLD
Lack of functional CYLD in mice leads to early aging and cancer.
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630-660 / 1000+ resultsresearch Unusual presentation with polymenorrhagia and markedly high 17-hydroxy progesterone levels in a lady with Non-Classic Congenital Adrenal Hyperplasia.
A woman with non-classic CAH had unusual heavy periods and high hormone levels, improved with treatment.
research Cerebellar hypoplasia, hypergonadotrophic hypogonadism, retinitis pigmentosa, alopecia, microcephaly, psychomotor retardation, and short stature: “D-CHRAMPS syndrome”
"D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research Inherited Disorders of the Hair
The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
research 507 Trial to investigate the role of ATP-sensitive potassium channels (KATPc) in dermal papilla cells (DPCs)
ATP-sensitive potassium channels are important for hair growth.
research Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2
Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research El teorema del 0,7 o el otro teorema de Pitágoras
A CCS patient with severe complications was successfully treated using combined therapies.
research T Cell Immunodeficiency, Congenital Alopecia, and Nail Dystrophy
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
research Uterus Hyperplasia and Increased Carcinogen-Induced Tumorigenesis in Mice Carrying a Targeted Mutation of the Chk2 Phosphorylation Site in Brca1
Mice with a specific BRCA1 mutation have a higher risk of tumors, especially in the uterus and ovaries.
research Gene expression profiling suggests severe, extensive central centrifugal cicatricial alopecia may be both clinically and biologically distinct from limited disease subtypes
Severe CCCA may be biologically and clinically different from milder forms.
research Androgen Biosynthesis and Gene Defects
Gene mutations can cause problems in male genital development.
research Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism*
People who carry the 21-Hydroxylase Deficiency gene are not more likely to have excessive male hormone levels.
research Molecular basis of hypohidrotic ectodermal dysplasia: an update
Mutations in specific genes disrupt development of sweat glands, teeth, hair, skin, and nails in HED.
research Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
research Abstract CN06-04: The hedgehog signaling pathway in cancer.
The Hedgehog signaling pathway is linked to cancer development, and targeting it with inhibitors shows promise but faces challenges like resistance.
research Management of CAH during pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Keratin-6 driven ODC expression to hair follicle keratinocytes enhances stemness and tumorigenesis by negatively regulating Notch
ODC overexpression in hair cells increases tumor growth by reducing Notch signaling.
research Multiple cyclic nucleotide‐gated channels coordinate calcium oscillations and polar growth of root hairs
Cyclic nucleotide-gated channels are crucial for proper root hair growth and calcium balance in plants.
research A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia
A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
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 Thehairless gene of the mouse: Relationship of phenotypic effects with expression profile and genotype
Mutations in the hairless gene in mice affect its expression and lead to a range of developmental issues in multiple tissues.
research Genetic association of HLA‐DQB1 and HLA‐DRB1 polymorphisms with alopecia areata in the Italian population
The DQB1*03 allele is linked to higher alopecia areata risk in Italians.