research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
Search
for
Sort by
Research
150-180 / 1000+ results
research 559 Induction of tissue-specific premature stem cell aging promotes senescence-like phenotypes in remote multiple organs
Aging in one type of stem cell can cause aging-like changes in various organs.
research A 10 Mb duplication in chromosome band 5q31.3–5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo “hairless” rat
A gene deletion causes the "hairless" trait in Iffa Credo rats.
research Electrophoretic variation of hair proteins.
Most people have similar hair protein patterns, but a rare variant was found in two women.
research Identification and dissection of an enhancer controlling epithelial gene expression in skin
A specific DNA region controls skin cell gene expression by working with certain proteins.
research Itpr3 Is Responsible for the Mouse Tufted (tf) Locus
The Itpr3 gene causes a specific hair pattern in mice.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research The crest phenotype in domestic chicken is caused by a 195 bp duplication in the intron of HOXC10
A 195 bp duplication in the HOXC10 gene causes crests in domestic chickens.
research Marie Unna Hereditary Hypotrichosis Gene Maps to Human Chromosome 8p21 Near Hairless
The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
research Live-cell Imaging and Analysis of Germline Stem Cell Mitosis in Caenorhabditis elegans
The protocol allows easy imaging of dividing cells in C. elegans and can be used for other organisms.
research Characterization of New Members of the Human Type II Keratin Gene Family and a General Evaluation of the Keratin Gene Domain on Chromosome 12q13.13
research Evidence for Genetic Heterogeneity in Monilethrix
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Protein chains in hair and epidermal keratin IF: Structural features and spatial arrangements
research XX/XY chimerism in tortoiseshell tomcats – a new case and review of the literature
Tortoiseshell tomcats with XX/XY chimerism can be fertile.
research Use of Myoinositol in PCOS
Myoinositol effectively manages PCOS with fewer side effects than metformin.
research SUN-208 Rare Case of 47XXY/46XX Mosaic Klinefelter Syndrome
Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
research Hair follicle differentiation: expression, structure and evolutionary conservation of the hair type II keratin intermediate filament gene family
Type II keratin genes are crucial for hair follicle differentiation and have a conserved structure and expression pattern.
research Abordagens psicológicas e novas terapêuticas perante as escolhas do paciente portador da Síndrome de Morris
Patients with Complete Androgen Insensitivity Syndrome need psychological support and multidisciplinary care for complex treatment decisions.
research Association of insulin-like growth factor 2 Apa1 A820G gene (rs680) polymorphism with polycystic ovarian syndrome
A certain gene variation is linked to a higher risk of polycystic ovarian syndrome in South Indian women.
research Utility of GLI1 RNA Chromogenic in Situ Hybridization in Distinguishing Basal Cell Carcinoma From Histopathologic Mimics
GLI1 RNA CISH effectively identifies basal cell carcinoma but is less specific for benign follicular tumors.
research A doxycycline- and light-inducible Cre recombinase mouse model for optogenetic genome editing
The DiLiCre mouse model is an effective tool for precise genome editing using light.
research Role of Myo-inositol and D-Chiro-Inositol in Improvement of Endocrine and Clinical Parameters in Girls affected by PCOS
Myo-inositol and D-chiro-inositol improve hormonal and physical symptoms in teenage girls with PCOS.
research New familial association between ocular coloboma and loose anagen syndrome
Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Worldwide cohort study of 46, XY differences/disorders of sex development genetic diagnoses: geographic and ethnic differences in variants
About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
research The TRF1 telomere protein is essential for the generation and maintenance of iPS cells and marks both pluripotent and adult stem cells
TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
research Spangled hair in siblings
Two siblings had a rare hair condition with banded hair, which doesn't need treatment.
research Structural changes in the trichocyte intermediate filaments accompanying the transition from the reduced to the oxidized form
Oxidation changes the structure of hair protein filaments, causing them to compact and rearrange.