research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
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120-150 / 1000+ resultsresearch A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21.
Pachyonychia congenita is linked to a keratin gene on chromosome 17.
research Expression of Keratin 75 (K6hf) in Oral Squamous Cell Carcinoma
Keratin 75 might be important in oral cancer progression.
research Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
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 Co-operation between follicular ornithine decarboxylase and v-Ha-ras induces spontaneous papillomas and malignant conversion in transgenic skin
High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research Regulated Proenkephalin Expression in Human Skin and Cultured Skin Cells
Human skin cells produce proenkephalin, which changes with environmental factors and skin diseases.
research Identification of the Rat Rex Mutation as a 7-bp Deletion at Splicing Acceptor Site of the Krt71 Gene
A gene mutation causes curly hair and hair loss in rats.
research Re-Assessing K15 as an Epidermal Stem Cell Marker
research Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31
A new genetic region, 17q21.31, is linked to higher ovarian cancer risk.
research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
research Efficient In Vivo Targeting of Epidermal Stem Cells by Early Gestational Intraamniotic Injection of Lentiviral Vector Driven by the Keratin 5 Promoter
Injecting lentiviral vectors into early gestation mice effectively targets skin stem cells for potential gene therapy.
research Recurrent E413K Mutation of hHb6 in a Japanese Family with Monilethrix
The E413K mutation in the hHb6 gene causes monilethrix, a hair disorder, but doesn't show consistent symptoms.
research Lepromatous Leprosy in a Renal Transplant Recipient
A kidney transplant patient developed leprosy, likely due to immunosuppression and genetic factors, and improved with treatment.
research Molecular cloning and characterization analysis of LEF-1 gene from Inner Mongolia Cashmere Goat
The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
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 Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia
Mutations in the KRT85 gene cause hair and nail problems.
research 565 Cutaneous delivery of LEKTI via an engineered strain of staphylococcus epidermidis for the treatment of netherton syndrome
ATR12-351 ointment safely delivers LEKTI protein to the skin, reducing enzyme activity in Netherton syndrome.
research Directed Expression of Keratin 16 to the Progenitor Basal Cells of Transgenic Mouse Skin Delays Skin Maturation
Keratin 16 delays skin maturation and affects skin and hair development in mice.
research Keratin 19: Predicted Amino Acid Sequence and Broad Tissue Distribution Suggest it Evolved from Keratinocyte Keratins.
research Informàtica i Dret penal: Els delictes relatius a la informàtica
Two new gene mutations cause a rare hair disorder.
research Carbobenzoxy-capped Phe-Lys(BODIPY TMR-X-acyloxymethyl ketone(QSY7)
Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
research K15 promoter-driven enforced expression of NKIRAS exhibits tumor suppressive activity against the development of DMBA/TPA-induced skin tumors
NKIRAS2 can suppress certain skin tumors but its effect on cancer varies with context and expression level.
research Keratin 79 is a PPARA target that is highly expressed by liver damage
Keratin 79 is linked to liver damage and may help diagnose liver diseases.
research Hair Keratin Associated Proteins: Characterization of a Second High Sulfur KAP Gene Domain on Human Chromosome 2111In fond memory of Dr Peter Steinert.
A second domain of high sulfur KAP genes on chromosome 21q23 is crucial for hair structure.
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 Localized variant of junctional epidermolysis bullosa with R795X mutation
Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
research Concerted gene duplications in the two keratin gene families
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.