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
180-210 / 1000+ results
research Flightless I Expression Enhances Murine Claw Regeneration Following Digit Amputation
Mice with more Flightless I protein grew back their claws better after amputation.
research Nevus lipomatosus cutaneous superficialis with perifollicular fibrosis.
A rare skin condition in a baby showed unusual fat and hair follicle changes.
research Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research The successful treatment of nephrogenic fibrosing dermopathy (NFD) with mycophenolate mofetil (MMF)
Mycophenolate mofetil improved skin condition in a man with nephrogenic fibrosing dermopathy.
research From signal to form: Nod factor as a morhogenetic signal molecule to induce symbiotic responses in legume root hairs
Nod factor can trigger changes in legume root hairs with just one molecule.
research Deficiency of Crif1 in hair follicle stem cells retards hair growth cycle in adult mice
Lack of Crif1 in hair follicle stem cells slows down hair growth in mice.
research Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
Progerin affects cell shape but not hair or skin in mice.
research Protein and amino acid composition of hair from mice carrying the naked (N) gene
The N gene affects the protein makeup of mouse hair.
research Strength and Tenderness: Fibronectin Joins Hair Follicle Stem Cell Niche
Fibronectin is essential for hair follicle regeneration and may help rejuvenate aged skin.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Epithelial Fibronectin meshwork controls skin regeneration
Fibronectin is essential for hair follicle regeneration by supporting stem cells.
research Identification of an Intronic Regulatory Element Necessary for Tissue-Specific Expression of Foxn1 in Thymic Epithelial Cells
A specific DNA region is crucial for Foxn1 gene expression in thymus cells but not in hair follicles.
research Mitochondrial Complex I Activity Suppresses Inflammation and Enhances Bone Resorption by Shifting Macrophage-Osteoclast Polarization
Mitochondrial Complex I reduces inflammation and increases bone breakdown by affecting certain immune cells.
research Safety of Whole-Body Abrogation of the TRF1 Shelterin Protein in Wild-Type and Cancer-Prone Mouse Models
Deleting the Trf1 protein in mice is safe and may help prevent cancer without major side effects.
research A New Role for an Old Friend: NFAT and Stem Cell Quiescence
NFATc1 is crucial for keeping hair follicle stem cells inactive.
research Serum nuclear factor E‐2‐related factor 2 in female pattern hair loss
Women with pattern hair loss may have more stress in their bodies due to a lack of NRF2, a protein. Eating healthy and losing weight could help reduce this stress and improve hair loss. NRF2 boosters might also help treat this type of hair loss.
research LB1007 Systemic treatment with a KLK5 inhibitor shows efficacy in a murine model of Netherton syndrome
A KLK5 inhibitor effectively improved skin symptoms in a mouse model of Netherton Syndrome.
research Lamellar ichthyosis with pseudoexon activation in the transglutaminase 1 gene
The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
research 157 Analysis of the hybrid schwannoma and neurofibroma including a case report of schwannomatosis caused by a mutation in the LZTR1 gene
Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
research Decision letter: Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research Birt-Hogg-Dube Syndrome with a Novel Mutation in the FLCN Gene
A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
research 130 Expression of nidogen1 in basal cell carcinoma
Higher levels of nidogen1 and type IV collagen are found in basal cell carcinoma compared to normal skin.
research The TNFRSF1B Connection: Implications for Androgenetic Alopecia Pathogenesis and Treatment
Targeting the TNFRSF1B gene may help treat hair loss.
research Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fzica) mice points to fuzzy as a key element of hair cycle control
The fuzzy gene is crucial for controlling hair growth cycles.
research LncRNA018392 promotes the proliferation of Liaoning cashmere goat skin fibroblasts by upregulating CSF1R through binding to SPI1
LncRNA018392 helps goat skin cells grow by increasing CSF1R.
research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Pharmacotherapy of plexiform neurofibromas in patients with neurofibromatosis type 1. Possible adverse events and their management
Selumetinib effectively reduces tumor size in many children with neurofibromatosis type 1, but can cause skin and hair issues.