research 882 Syndactyly type III and hypotrichosis in oculodentodigital syndrome with GJA1 mutation
A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
Search
for
Sort by
Research
300-330 / 1000+ results 
research Increased copy number of the TERT and TERC telomerase subunit genes in cancer cells
Cancer cells often have more copies of TERT and TERC genes, which helps them grow and could affect patient outcomes.
research Author response: Deletion of the MAD2L1 spindle assembly checkpoint gene is tolerated in mouse models of acute T-cell lymphoma and hepatocellular carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Structural Transition of Trichocyte Keratin Intermediate Filaments During Development in the Hair Follicle
research Locations of synthesis of hair structural proteins in human anagen follicles
Hair structural proteins are synthesized sequentially in specific cells, offering a new way to study hair proteins and defects.
research Variation in the ovine trichohyalin gene and its association with wool curvature
Variation in the TCHH gene affects wool curliness in sheep.
research Scraggly, a new hair loss mutation on mouse Chromosome 19
The scraggly mutation causes hair loss and skin defects in mice.
research Collective heterogeneity of mitochondrial potential in contact inhibition of proliferation
Mitochondrial activity varies in cells before they stop growing, affecting their growth potential.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research The Localization of Dehydrogenase Activity and Sulphydryl Groups in Wool and Hair Follicles by the use of Tetrazolium Salts
INT effectively shows enzyme activity and protein groups in wool and hair follicles.
research iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
research A novel point mutation of keratin 17 (KRT17) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
research Mapping of a novel locus for keratosis follicularis squamosa on chromosome 7p14.3–7p12.1
A new gene location for Keratosis follicularis squamosa was found on chromosome 7p14.3-7p12.1.
research Distinct use of super-enhancer elements controls cell type–specific CD25 transcription and function
Super-enhancers control CD25 expression in specific cell types, affecting immune function.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research [Association of eight single nucleotide polymorphisms of chromosomes 20 and X with androgenetic alopecia among ethnic Han Chinese from Yunnan].
Certain genetic markers on chromosome 20 are linked to hair loss in the Han Chinese from Yunnan.
research Μελέτη της έκφρασης των δεικτών πολυδυναμικότητας στις ιδιοπαθείς φλεγμονώδεις νόσους του εντέρου
OCT4B1 and SOX-2 levels are higher in Crohn's and ulcerative colitis patients, possibly aiding tissue repair.
research Beyond Spectral Similarity: How to Distinguish Polymorphs with Similar Solid‐State Circular Dichroism Anisotropy Spectra?
A new method using solid-state circular dichroism anisotropy can distinguish similar chiral compounds better than traditional techniques.
research High proliferation and delamination during skin epidermal stratification
High proliferation and cell delamination drive early skin development, while later stages may not rely on cell division orientation.
research Isolation of sensory hair cell specific exosomes in human perilymph
research Isolation of sensory hair cell specific exosomes in human perilymph
research A girl with loose anagen hair syndrome and concurrent uncombable hair syndrome
A girl had two rare hair conditions that helped understand their overlap.
research Genomic Characterization of the Human Type I Cuticular Hair Keratin hHa2 and Identification of an Adjacent Novel Type I Hair Keratin Gene hHa5
research Isolation and short-term culture of primary keratinocytes, hair follicle populations and dermal cells from newborn mice and keratinocytes from adult mice for in vitro analysis and for grafting to immunodeficient mice
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Increased frequency of heterozygoshy for the 21 hydroxylase deficiency among hersute females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat
Inner Mongolia cashmere goats have the lowest inbreeding, aiding future breeding and conservation.