research Three cDNA sequences of mouse type I keratins. Cellular localization of the mRNAs in normal and hyperproliferative tissues.
Different keratins have unique expression patterns in mouse skin cells.
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570-600 / 1000+ resultsresearch Characterization of a 300 kbp Region of Human DNA Containing the Type II Hair Keratin Gene Domain
The research identified six functional hair keratin genes and four pseudogenes, providing insights into hair formation and gene organization.
research Generalised Glucocorticoid Resistance
Generalized glucocorticoid resistance causes hormone imbalances and varied symptoms due to gene mutations.
research Novel de novo pathogenic variant in the ODC1 gene in a girl with developmental delay, alopecia, and dysmorphic features
A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
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 Phenotypic Plasticity: Driver of Cancer Initiation, Progression, and Therapy Resistance
Understanding phenotypic plasticity is crucial for developing effective cancer therapies.
research Miscellaneous Steroids
The document concludes that scientists created various steroids with different properties, including a more effective semi-synthetic vitamin D.
research Modelling androgen synthesis and action during human sexual differentiation
Male sexual differentiation is regulated independently, while female differentiation occurs in an androgenic environment, affecting conditions like congenital adrenal hyperplasia.
research The ITGB6 gene: its role in experimental and clinical biology
The ITGB6 gene is important for tissue repair and hair growth, and mutations can lead to enamel defects and other health issues.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research 96/06363 Flash co-pyrolysis of coal retaining depolymerized polyethylene as radical donor
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research A Comparative study of Regulations of Cell and Gene therapy in US, EU and India
The US and EU lead in cell and gene therapy regulations with more approvals and clinical trials, while India is in early stages with fewer approvals and expedited processes.
research Morphological and Macromolecular Structure
research Morphological and Macromolecular Structure
research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia
AR polyglycine repeat doesn't cause baldness.
research PSAT097 Patient Preference Research: Preferred Adjunctive Medication Attributes of Adult Patients with Classic Congenital Adrenal Hyperplasia
Adults with classic congenital adrenal hyperplasia value medication that prevents weight gain from glucocorticoids the most.
research Isolating subpopulations of human epidermal basal cells based on polyclonal serum against trypsin-resistant CSPG4 epitopes
The research found a way to identify and study skin cells with stem cell traits, revealing they behave differently in culture and questioning current stemness assessment methods.
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 Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
research Cell Polarization Defects in Early Heart Development
Defects in certain proteins cause major heart abnormalities during early development.
research Genetics of Diabetes in Childhood
Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
research 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath
A specific mutation in the TRPV3 gene causes hair follicle cells to develop improperly, leading to hair loss.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research Sequences and differential expression of three novel human type-II hair keratins
Hair differentiation starts earlier than thought, involving multiple type-II keratins.
research Characterization of metabolic changes in the phenotypes of women with polycystic ovary syndrome in a large Mediterranean population from Sicily
Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
research Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene.
Mice with extra sheep genes had hair that fell out and regrew in cycles.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
A single amino acid change in the vitamin D receptor can disrupt its function and lead to hair loss.