research ATP6AP1‐CDG: Follow‐up and female phenotype
ATP6AP1‐CDG can cause hearing loss, hair loss, and protein issues, even in female carriers.
Search
for
Sort by
Research
420-450 / 1000+ resultsresearch Human Trichohyalin Gene Is Clustered with the Genes for Other Epidermal Structural Proteins and Calcium-Binding Proteins at Chromosomal Locus 1q21
research GBP1 as a machine learning-prioritized biomarker and therapeutic target for epstein-barr virus-induced clear cell renal cell carcinoma: multi-omics causal validation
GBP1 is a key target for treating Epstein-Barr virus-related kidney cancer, and finasteride may help.
research Transcriptome analysis of frontal fibrosis alopecia revealed involvement of immune cells and ferroptosis
The research suggests that immune cells and a specific type of cell death called ferroptosis are involved in Frontal fibrosis alopecia.
research 917 Frontal fibrosing alopecia scalp profiling links Th1/Th2 and JAK3 activation with fibrosis and loss of follicular stem cells
Targeting immune pathways like JAK/STAT may help treat frontal fibrosing alopecia.
research PSAT1 regulates hair follicle growth and stem cell behavior in cashmere goats
PSAT1 is key for hair growth and stem cell function in cashmere goats.
research Expression, characterization, and structural analysis of human liver delta4-3-ketosteroid 5beta-reductase (AKR1D1) and its disease-related mutant P133R
The P133R mutation in AKR1D1 enzyme causes harmful bile acid buildup, explaining related health issues.
research ATP-dependent chromatin remodeling during mammalian development
ATP-dependent chromatin-remodeling complexes are crucial for gene regulation, cell differentiation, and organ development in mammals.
research Pharmacogenetics of the Androgen Metabolic Pathway
research 0866 Role of transcriptional elongation in dermal fat development
Nelfb is essential for dermal fat development and survival.
research Biotransformation of tirilazad in human: 4. effect of finasteride on tirilazad clearance and reduced metabolite formation.
research Arginine Transferase Activity In Homogenates From Guinea-Pig Hair Follicles
research Alopecia areata mit gutem Ansprechen auf Tofacitinib
Tofacitinib helped regrow hair in a woman with alopecia areata.
research ACKR2 limits skin fibrosis and hair loss through IFN‐β
ACKR2 helps prevent skin scarring and hair loss by controlling inflammation.
research Specific inhibition of FGF5-induced cell proliferation by RNA aptamers
RNA aptamers can specifically block FGF5-related cell growth, potentially treating related diseases or hair disorders.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research A Case of Tofacitinib for the Treatment of Resistant Vitiligo and Sustained Repigmentation After Discontinuation
A woman's vitiligo improved with tofacitinib treatment, and her skin color remained even after stopping the medication, but there are concerns about cancer risk.
research Expression of AR, 5αR1 and 5αR2 in bladder urothelial carcinoma and relationship to clinicopathological factors
Androgens may influence bladder cancer progression by affecting cellular behavior.
research Excellent response to tofacitinib treatment in a patient with alopecia universalis
A patient with complete hair loss regrew all her hair using tofacitinib.
research A retrospective analysis of efficacy and safety of intralesional triamcinolone injections in the treatment of frontal fibrosing alopecia either as monotherapy or as a concomitant therapy
Intralesional triamcinolone injections can effectively stop frontal fibrosing alopecia with minimal side effects.
research Synaptic processes and immune-related pathways implicated in Tourette Syndrome
The study found that Tourette Syndrome may be linked to certain immune system processes and synaptic signaling.
research AP-1 and TGFß cooperativity drives non-canonical Hedgehog signaling in resistant basal cell carcinoma
AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
research Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes
The ABCA4 gene protects hair follicle stem cells from toxic vitamin A byproducts.
research N-methylformamide induces multiple organ toxicity in Fischer 344 rats
research A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
A gene mutation in mice causes severe skin disorder similar to a human condition.
research In‐silico Screening of ATP‐competitive Inhibitory Activities of Phytochemicals against Janus Kinase 3 and Its In‐vitro Evaluation
Poncirin is a promising inhibitor of Janus Kinase 3, potentially better than tofacitinib.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Oral Tofacitinib for the Management of Moderate to Severe Alopecia Areata in Children and Adolescents: A Retrospective Study of 36 Patients
Tofacitinib helps hair regrow in some kids with severe alopecia areata, but more research is needed on long-term effects.
research Myocyte Androgen Receptor Modulates Body Composition and Metabolic Parameters
Activating androgen receptors in muscle can increase muscle mass and reduce fat.
research Hepatocyte growth factor combined with adenosine deaminase as biomarker for diagnosis of tuberculous pleural effusion
HGF combined with ADA is highly accurate for diagnosing tuberculous pleural effusion, especially in younger females.