research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
Search
for
Sort by
Research
690-720 / 1000+ resultsresearch A syndrome of congenital ichthyosis, mental retardation, myopathy and anemia in dizygotic twin sisters
The twins' condition is unique and doesn't match any known syndromes.
research 012 A Case Report of Central Centrifugal Cicatricial Alopecia in Two Generations
CCCA can affect both genders and all ages, and it has a genetic component.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 gene is up-regulated in keloid patients, suggesting potential targets for treatment.
research Ion Sequential Therapy Aligned With Pathological Changes Enhances Cardiac Function After Myocardial Infarction
Ion sequential therapy improves heart function after a heart attack.
research 51223 A novel human disease model of alopecia areata to evaluate benefit of the DHODH inhibitor farudodstat
research Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
A new gene mutation is linked to monilethrix in the studied family.
research Catagen in the hairless house mouse
Hairless mice have longer hair follicles and abnormal structures during the catagen phase.
research Pilotropic Mycosis fungoides
research Selective Expression of Calcium-Binding Proteins S100A8 and S100A9 at Distinct Sites of Hair Follicles
S100A8 and S100A9 proteins help form hair shafts during growth.
research Genetic Variants at 20p11 Confer Risk to Androgenetic Alopecia in the Chinese Han Population
Genetic variants at 20p11 increase baldness risk in Chinese Han people.
research Gene Expression of Mouse S100A3, a Cysteine-Rich Calcium-Binding Protein, in Developing Hair Follicle
S100A3 protein is crucial for hair shaft formation in mice.
research Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan
Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
research Single-Cell RNA Sequencing Reveals Cellular and Transcriptional Changes Associated With M1 Macrophage Polarization in Hidradenitis Suppurativa
Immune cells in Hidradenitis suppurativa become more inflammatory and may be important for treatment targets.
research Investigation of the hair follicle inner root sheath in scarring and non‐scarring alopecia
IRS premature desquamation is not unique to CCCA and occurs in various scarring alopecias.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11*1
Two new gene clusters important for hair formation were found on human chromosome 11.
research Efficient Editing of CSLD2 Orthologue by CRISPR/Cas9 Affects Cell Morphogenesis of Root Hair in Spinach
CRISPR/Cas9 editing in spinach affects root hair growth by altering specific genes.
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 Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
Lack of cystatin M/E causes thin hair and dry skin.
research Increased PHGDH expression uncouples hair follicle cycle progression and promotes inappropriate melanin accumulation
Increased PHGDH expression causes early melanin buildup in hair follicles.
research XIAP Stabilizes DDRGK1 to Promote ER‐Phagy and Protects Against Noise‐Induced Hearing Loss
The study explores the role of DDRGK1-mediated ER-phagy in noise-induced hearing loss (NIHL), revealing that ER-phagy is crucial for maintaining ER homeostasis and cell survival. It was found that noise exposure decreases XIAP and DDRGK1 protein levels, inhibiting ER-phagy. XIAP binds to DDRGK1, enhancing its stability and activating ER-phagy. In noise-exposed CBA/CaJ mice, gastrodin, a traditional Chinese medicine ingredient, mitigates cochlear hair cell loss, synaptic damage, and hearing loss by promoting XIAP expression, which increases DDRGK1 levels and activates ER-phagy. These results suggest that targeting XIAP-DDRGK1-mediated ER-phagy could be a novel therapeutic approach for treating NIHL.
research 376 Tsc2 disruption in mesenchymal progenitors regulates hair follicles and TGF beta signaling
Disrupting the Tsc2 gene in certain cells leads to thicker skin, larger hair, and changes in hair growth signaling, which can be partly reversed with specific treatment.
research CRABP1 Enhances the Proliferation of the Dermal Papilla Cells of Hu Sheep through the Wnt/β-catenin Pathway
CRABP1 boosts hair cell growth in Hu sheep by affecting key genes.
research Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin
A girl with a rare skin condition improved after one month of treatment with acitretin.
research Suprabasal Desmoglein 3 Expression in the Epidermis of Transgenic Mice Results in Hyperproliferation and Abnormal Differentiation
Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
research Overexpression of spermidine/spermine N1-acetyltransferase under the control of mouse metallothionein I promoter in transgenic mice: evidence for a striking post-transcriptional regulation of transgene expression by a polyamine analogue
Overexpression of SSAT in mice causes hair loss, liver damage, and sensitivity to polyamine analogues.
research Hair growth and restoration by transcriptional control of tissue regeneration in cancer recovery process by Huaier.
Huaier helps hair grow back and repairs tissue after cancer treatment.
research Autoimmune polyendocrine syndrome type 1: an Italian survey on 158 patients
APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.