research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
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630-660 / 1000+ resultsresearch Genetically separable determinants of hair keratin gene expression
Mutations in the Whn gene affect hair keratin gene expression differently.
research lncRNA H19 acts as a ceRNA to regulate the expression of CTGF by targeting miR-19b in polycystic ovary syndrome
H19 may help cause PCOS by affecting CTGF levels, suggesting a new treatment target.
research Mutation in human hair keratin hHb6 in monilethrix: clinical variation is not due to genetic variation.
research Skin abnormalities generated by temporally controlled RXRα mutations in mouse epidermis
RXRα is crucial for hair growth and skin cell function.
research Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation
Activated LEF/TCF complexes are crucial for hair development and cycling.
research In Silico Promoter Motif Analysis of Human Fertility-Related Genes
The study found potential new DNA patterns in fertility genes, but further testing is needed.
research Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses
Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
research Embryonic hair follicle fate change by augmented β-catenin through Shh and Bmp signaling
β-catenin, Shh, and Bmp signaling control hair follicle development.
research [Molecular cloning of full-long cDNA sequences encoding hairless gene in the Kunming mouse].
The hairless gene in Kunming mice is important for hair and skin, and shows genetic variations.
research Sox2 in the dermal papilla regulates hair follicle pigmentation
Sox2 controls hair color by affecting pigment production in hair follicles.
research Author response: Generation of inner ear hair cells by direct lineage conversion of primary somatic cells
Four transcription factors can convert mouse cells into hair cell-like cells, aiding hearing loss research and treatment.
research Sp6 downregulation of follistatin gene expression in ameloblasts
Sp6 promotes tooth development by reducing follistatin levels.
research Decision letter: Type XVII collagen coordinates proliferation in the interfollicular epidermis
Type XVII collagen may help prevent skin aging.
research The Rho GTPase regulator ARHGEF3 orchestrates hair placode budding by coordinating cell fate and P-cadherin patterning in mice
ARHGEF3 is essential for proper hair follicle development in mice.
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 Hairless controls hair fate decision via Wnt/β–catenin signaling
The Hairless gene is crucial for hair cell development, affecting whether skin cells become hair or skin and oil gland cells.
research Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing
Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
research A new tool for conditional gene manipulation in a subset of keratin‐expressing epithelia
The Megsin-Cre transgene is a new tool for genetic manipulation in the skin and upper digestive tract.
research 1465 Optimization/characterization of a Focal Dermal Hypoplasia mouse model to test potential treatments
Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
research Histidine decarboxylase expression influences the neofolliculogenesis of newborn mouse dermal cells
The gene HDC is important for the development of hair follicles in newborn mice.
research Phospholipase C‐δ1 is an essential molecule downstream of Foxnl, the gene responsible for the nude mutation, in normal hair development
Phospholipase C-δ1 is crucial for normal hair development.
research Targeting Superficial or Nodular Basal Cell Carcinoma with Topically Formulated Small Molecule Inhibitor of Smoothened
The topical inhibitor CUR61414 was not effective in treating basal cell carcinoma in human trials.
research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research Molecular Basis for Hair Loss in Mice Carrying a Novel Nonsense Mutation (Hrrh-R) in the Hairless Gene (Hr)
A new mutation in the hairless gene causes hair loss and skin wrinkling in mice.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Phenotypic variability associated withWNT10Anonsense mutations
WNT10A mutations cause varied symptoms in patients with odonto-onycho-dermal dysplasia.
research Expression of nicastrin, NICD1, and Hes1 in NCSTN knockout mice: implications for hidradenitis suppurativa, Alzheimer’s, and liver cancer
research Hypoxia in Cell Reprogramming and the Epigenetic Regulations
Hypoxia and epigenetics are crucial for cell growth and tissue regeneration.