research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
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240-270 / 1000+ resultsresearch A kindred with mutant IKAROS and autoimmunity
A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
research Structure and site of expression of a murine type II hair keratin
A specific type II hair keratin was identified and found in hair cortex and tongue cells.
research LncRNA MSTRG.14227.1 regulates the morphogenesis of secondary hair follicles in Inner Mongolia cashmere goats via targeting ADAMTS3 by sponging chi-miR-433
LncRNA MSTRG.14227.1 hinders hair follicle development in cashmere goats, affecting cashmere quality.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Cartilage oligomeric matrix protein (COMP) forms part of the connective tissue of normal human hair follicles
A protein called COMP is part of the connective tissue in normal human hair follicles and may be important for hair health.
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.
research peri ‐Xanthenoxanthene (PXX): a Versatile Organic Photocatalyst in Organic Synthesis
PXX is an effective and affordable photocatalyst for creating new chemical bonds in organic synthesis.
research Epigenetic mechanism of Gtl2-miRNAs causes the primitive sheep characteristics found in purebred Merino sheep
A special gene region controls the re-emergence of a primitive wool type in Merino sheep, improving their wool yield and adaptability.
research Severe Monilethrix Associated with Intractable Scalp Pruritus, Posterior Subcapsular Cataract, Brachiocephaly, and Distinct Facial Features: A New Variant of Monilethrix Syndrome?
A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
research An incompletely penetrant novel MAFB (p.Ser56Phe) variant in autosomal dominant multicentric carpotarsal osteolysis syndrome
Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
research Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations
Researchers found 15 new genetic links to skin traits in Japanese women.
research 0750 Proteomics and transcriptomics profiling define molecular subtypes of advanced cutaneous T cell lymphoma and prognostic biomarkers
Three molecular subtypes of advanced skin T-cell lymphoma were identified, with potential biomarkers for predicting treatment response and disease progression.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Converging physiological roles of the anthrax toxin receptors
CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
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 De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
Human hair keratins K85 and K35 create unique filament patterns important for early hair formation.
research 1426 Deletion of hoxc13 in frogs reveals key steps in the molecular evolution of cornified skin appendages
Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
research Organization and Expression of Hair Follicle Genes.
Hair growth is controlled by specific gene clusters and proteins, and cysteine affects hair gene expression in sheep.
research Autosomal recessive woolly hair/hypotrichosis with homozygous mutation in the LIPH gene: a case report
A genetic mutation in the LIPH gene causes a rare hair disorder with sparse, curly hair.
research Hoxc13 and homologs of mammalian hair keratins are required for the cornification of nuptial pads in Xenopus frogs
Hoxc13 and hair keratin are needed for forming rough skin on frog mating pads.
research Identification of differentially expressed genes affecting hair and cashmere growth in the Laiwu black goat by microarray
Specific genes influence hair and cashmere growth in Laiwu black goats.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Nε-(carboxymethyl) lysine represses hair follicle formation by inhibiting Sonic hedgehog expression in a NF-κB-independent manner
Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.
research Prevalent founder mutation c.736T>A of LIPH in autosomal recessive woolly hair of Japanese leads to variable severity of hypotrichosis in adulthood
A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
research Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research Targeting noncanonical nuclear factor kappa B signalling in CYLD cutaneous syndrome by selective inhibition of IκB kinase alpha
Topical IKKα inhibitors may help prevent CCS tumours.
research A polymorphism in the matrix metalloproteinase-1 gene promoter is associated with the presence of polycystic ovary syndrome in Caucasian women
A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
research LRIG1 is a positive prognostic marker in Merkel cell carcinoma and Merkel cell carcinoma expresses epithelial stem cell markers
LRIG1 is linked to better survival in Merkel cell carcinoma.
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.