research Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
Search
for
Sort by
Research
450-480 / 1000+ resultsresearch Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues. I. Human and bovine hair follicles
Human and bovine hair follicles have distinct cytokeratins specific to hair-forming cells.
research For early diagnosis of young patients with Werner syndrome: Indication for genetic testing
Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
research Investigating the origins of nanostructural variations in differential ethnic hair types using X‐ray scattering techniques
Different ethnic hair types have unique nanoscopic and molecular features despite having the same basic keratin structure.
research [The complex detection of AB(O)-system antigens and of keratin polymorphism in the forensic medical study of hair].
A 5 cm hair sample can reveal blood type and keratin type for forensic use.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research Evaluation of loci to predict ear morphology using two SNaPshot assays
Genetic markers can help predict ear shapes for forensic use.
research Genetic alterations involved in the expression of the coloring of tortoiseshell and calcial hair in domestic cats males: review.
research Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum
research Nucleation and growth of macrofibrils in trichocyte (hard-α) keratins
Sheet formation is key to macrofibril structure differences in wool.
research Few Simple Sequence Repeats in Human Hair
Human hair keratin genes have unique simple sequence repeats that may help track genetic variations.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
research A quantitative ultra-performance liquid chromatography high-resolution mass spectrometry analysis of steroids from human scalp hair
The method can measure multiple steroids in human hair to study long-term steroid metabolism, especially in newborns and children.
research Patterns of ovarian morphology in polycystic ovary syndrome: a study utilising magnetic resonance imaging
The study found that women with PCOS have more and larger ovarian follicles and differences in ovarian structure, but these features alone can't always diagnose PCOS.
research Cross-section trichometry, a clinical tool for assessing the progression and treatment response of alopecia
Cross-section trichometry is an accurate method to measure hair loss and growth.
research A Powerful Method for Pleiotropic Analysis under Composite Null Hypothesis Identifies Novel Shared Loci Between Type 2 Diabetes and Prostate Cancer
The new method found new shared genetic areas linked to both Type 2 Diabetes and Prostate Cancer.
research 440 Charting the Spatially Resolved Hair Follicle Stem Cell Niche: A Multi-Omics Atlas of Healthy and Diseased Scalp
Disrupted cell interactions in hair follicles contribute to hair loss in androgenetic alopecia.
research Monilethrix: the use of tricoscopy in clinical diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research Diagnostic imaging in congenital adrenal hyperplasia – how does it help?
Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
research In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Prenatal diagnosis of trichothiodystrophy is possible in the second trimester using fetal eyebrow biopsy, with sulfur content analysis being more reliable.
research O02 Ubiquitomics of CYLD-deficient skin tumours reveals dysregulation of hair follicle keratinocyte processes
CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
research Annotation of sheep keratin intermediate filament genes and their patterns of expression
Sheep have 17 keratin genes, similar to humans, but with different expression patterns affecting wool and hair.
research Characterization of DNA Methylation and Screening of Epigenetic Markers in Polycystic Ovary Syndrome
DNA methylation changes in women with PCOS could be used as disease markers and suggest new treatment targets.
research Culture of hair matrix and follicular keratinocytes
research BIPHENOTYPIC LEUKAEMIA
Acute leukemias with the Philadelphia chromosome may be biphenotypic, and identifying this is important for proper treatment.
research A two-phase model of skin epidermal stratification: lessons from centrosomes
Removing centrosomes from skin cells leads to thinner skin and stops hair growth, but does not greatly affect skin cell differentiation.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.