research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
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300-330 / 1000+ results research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Characteristics of central cicatricial centrifugal alopecia that developed in elderly compared with younger patients
Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Twenty nail onychomadesis: An unusual finding in Cronkhite–Canada syndrome
A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
research CONTACT DERMATITIS – A REVIEW OF THE LITERATURE WITH THE CONNUBIAL TYPE IN FOCUS
Connubial contact dermatitis is often missed, making treatment harder.
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 Author response: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is essential for pH balance and normal cell function in plants.
research NFIC promotes the vitality and osteogenic differentiation of rat dental follicle cells
NFIC helps rat dental cells grow and turn into bone-like cells.
research A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation
A specific gene change plus an additional mutation in the same gene cause hereditary trichilemmal cysts.
research hsa_circ_0002980 prevents proliferation, migration, invasion, and epithelial-mesenchymal transition of liver cancer cells through microRNA-1303/cell adhesion molecule 2 axis
hsa_circ_0002980 can help stop liver cancer cells from growing and spreading.
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Association of breast and colorectal cancer in patients with central centrifugal cicatricial alopecia: A retrospective, cross-sectional pilot study
Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.
research AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma
AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Characterization ofCDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy
CDH3-related disease causes worsening eye and hair issues.
research Genotypes of Single-nucleotide polymorphisms on DENND1A in an association with polycystic ovary syndrome among Saudi Arabian females
SNP rs2479106 in the DENND1A gene may increase PCOS risk in Saudi Arabian females.
research Planar Cell Polarity Cadherin Celsr1 Regulates Skin Hair Patterning in the Mouse
The Celsr1 gene is crucial for normal hair patterning in mice.
research 361 p120-catenin regulates epidermal inflammation in a cadherin-dependent manner
p120-catenin helps control skin inflammation by regulating cadherin levels.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Central centrifugal cicatricial alopecia: challenges and solutions
The document concludes that better treatments for CCCA are needed and more research is required to understand its causes related to hairstyling and genetics.
research Sostdc1 defines the size and number of skin appendage placodes
Sostdc1 controls the size and number of hair and mammary gland structures.
research The CLE40 and CRN/CLV2 Signaling Pathways Antagonistically Control Root Meristem Growth in Arabidopsis
CLE40 and CRN/CLV2 pathways have opposite effects on root growth in Arabidopsis.
research 854 CCL5 affects the hair-inductive capacity of three-dimensional (3D)-cultured dermal papilla cells
CCL5 is important for the hair growth potential of human dermal papilla cells.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research Deciphering the function of canonical Wnt signals in development and disease: conditional loss- and gain-of-function mutations of β-catenin in mice
Wnt signaling is vital for cell growth, development, and cancer research.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Quantification of mast cells in central centrifugal cicatricial alopecia
Mast cells may significantly contribute to central centrifugal cicatricial alopecia.
research Endocrine abnormalities in ring chromosome 11: a case report and review of the literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.