research A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis–ichthyosis–deafness (KID) syndrome
A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.
Search
for
Sort by
Research
90-120 / 1000+ resultsresearch The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research A novel regio-specific cyclosporin hydroxylase gene revealed through the genome mining of Pseudonocardia autotrophica
Scientists found a new gene in a bacterium that can modify an immunosuppressant drug, potentially helping to treat hair loss.
research Calcineurin-based immunosuppression in renal transplantation : focus on efficacy, the role of steroids, and the cardiovascular risk
Tacrolimus causes fewer acute rejections than cyclosporin A in kidney transplants but doesn't necessarily improve kidney function after one year; cardiovascular risks and side effects vary between the two drugs.
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 Special collection on inward rectifying K+ channels
Inward rectifier potassium channels are important in many body functions and diseases, and could be potential drug targets.
research NonClassic Congenital Adrenal Hyperplasia
NonClassic Congenital Adrenal Hyperplasia is a less severe form of a genetic disorder affecting adrenal gland function.
research Expression analysis of KAP9.2 and Hoxc13 genes during different cashmere growth stages by qRT-PCR method
KAP9.2 and Hoxc13 genes are important for cashmere growth and vary in activity during different stages.
research The effectiveness of remote interventions based on digital health technology in kidney transplant recipients: a systematic review
Digital health technology improves health and medication adherence in kidney transplant patients.
research CFTR potentiator ivacaftor protects against noise-induced hair cell loss by increasing Nrf2 and reducing oxidative stress
Ivacaftor can protect against noise-induced hearing loss by reducing oxidative stress.
research Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Combinatorial expression of cell cycle regulators is more suitable for immortalization than oncogenic methods in dermal papilla cells
Using a combination of specific cell cycle regulators is better for safely keeping hair root cells alive indefinitely compared to cancer-related methods.
research Cronkhite-Canada Syndrome Associated with Serrated Adenoma and Malignant Polyp: A Case Report and a Literature Review of 13 Cronkhite-Canada Syndrome Cases in Korea
First Korean case of Cronkhite-Canada syndrome with colon cancer and serrated adenoma.
research First-in-human phase 1 study of ETC-159 an oral PORCN inhbitor in patients with advanced solid tumours.
ETC-159 was safe up to 30 mg, but no tumor shrinkage was seen.
research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
research Tissue resident and follicular Treg cell differentiation is regulated by CRAC channels
CRAC channels are crucial for the development and function of specialized immune cells, preventing severe inflammation and autoimmune diseases.
research Two Calcium Sensor-Activated Kinases Function in Root Hair Growth
CIPK13 and CIPK18 genes are crucial for root hair growth in plants.
research CYP3A5 Polymorphism in Circulating Tumor Cells Confers an Increased Disease-Free Survival in DLBCL Patients Treated with R-CHOP
A specific genetic trait in tumor cells is linked to longer survival without disease in certain lymphoma patients.
research Human gene correlation analysis (HGCA): A tool for the identification of transcriptionally co-expressed genes
The HGCA tool helps identify genes that work together by analyzing their co-expression patterns.
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 Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Keratinocyte-specific ablation of the NF-κB regulatory protein A20 (TNFAIP3) reveals a role in the control of epidermal homeostasis
A20 protein is crucial for normal skin and hair development.
research Dedicator of Cytokinesis 5 Regulates Keratinocyte Function and Promotes Diabetic Wound Healing
Dock5 is important for skin healing and could help treat diabetic wounds.
research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.
Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
research ACKR2 limits skin fibrosis and hair loss through IFN‐β
ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
research Prediction of cell states and key transcription factors of the human cornea through integrated single-cell omics analyses
A new tool accurately identifies human cornea cell states and key factors.
research 848 Genes implicated in lipid & metabolic regulation downregulated in CCCA
848 genes related to fat and metabolism are less active in people with Central Centrifugal Cicatricial Alopecia.
research CXXC5: A novel regulator and coordinator of TGF-β, BMP and Wnt signaling
CXXC5 is a protein that controls cell growth and healing processes, and changes in its activity can lead to diseases like cancer and hair loss.
research Correlation analysis of four KRTAP gene polymorphisms and cashmere fiber diameters in two cashmere goat breeds
Certain gene variations are linked to the thickness of cashmere goat hair.