research Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese
New mutations in the VDR gene cause vitamin D-resistant rickets without hair loss.
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research The first observation of calcium oxalate accumulation in human hair
Calcium oxalate was found in human hair and could help detect certain health conditions.
research High-confidence cancer patient stratification through multiomics investigation of DNA repair disorders
CEP135 may predict cancer outcomes, and targeting PLK1 could help treat certain sarcomas.
research The KRAB domain zinc finger protein, Zfp157 , is expressed in multiple tissues during mouse embryogenesis and in specific cells in adult mammary gland and skin
Zfp157 is active in many mouse tissues during development and in specific adult cells.
research Tryptophan Missense Mutation in the Ligand‐Binding Domain of the Vitamin D Receptor Causes Severe Resistance to 1,25‐Dihydroxyvitamin D
A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
research Virtual screening of MAP-Tau protein inhibitors from Semecarpus anacardium Linn. leaf extract for cancer prevention
Semecarpus anacardium leaf extracts may offer safe, effective cancer treatment alternatives.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research Protein Microarrays
Protein microarrays are highly sensitive tools useful for disease diagnosis and studying proteins.
research Nephrogenic systemic fibrosis: Report of two cases
The document concludes that using gadolinium-based contrast agents during MRI can be linked to Nephrogenic Systemic Fibrosis in patients with severe kidney disease.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) due to AIRET16M mutation in a consanguineous Greek girl
An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
research SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research Novel anti-aging gene NM_026333 contributes to proton-induced aging via NCX1-pathway
The gene NM_026333 slows down aging by affecting the NCX1 pathway and could be targeted for anti-aging treatments.
research Signs of some hematological diseases with the help of monoclonal antibodies LT-1, LT-2, LT-7
Monoclonal antibodies LT-1, LT-2, and LT-7 help diagnose certain blood cancers.
research 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
A new mutation in the STING protein causes a disease with lupus-like symptoms and responds well to a specific inhibitor treatment.
research Structural and dynamic insights into substrate binding and catalysis of human lipocalin prostaglandin D synthase
The research explains how a human enzyme binds and processes its substrate, which could relate to its role in biological functions and hair loss.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research Anti‐keratin Monoclonal Antibody against Basal Cell Epithelioma Keratin: BKN‐1
BKN-1 antibody targets specific keratin in basal cell epithelioma and normal skin basal cells.
research PSXIV-17 Examining Mammary Gland Transcriptomic Profiles Using Rna-Seq in Slick and Wild-Type Haired Holstein Cattle Under Tropical Conditions
SLICK cattle have better heat tolerance due to specific gene expression and pathway differences.
research Estimation of Claudin 3 in the Sreum of Alopecia Areata Patients and Its Association with Disease Severity
Higher Claudin 3 levels in the blood are linked to more severe alopecia areata.
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 Keratinocyte integrin α3β1 induces expression of the macrophage stimulating factor, CSF-1, through a YAP/TEAD-dependent mechanism.
research Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation
Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.
research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
research Development of an aequorin-based assay for the screening of corticotropin-releasing factor receptor antagonists
The new assay can help develop products for hair re-growth.
research A New Heterozygous Variant of c.1225_1227delTTC (p.Phe409del) in Insulin Receptor Gene Associated with Severe Insulin Resistance and Hyperandrogenemia in an Adolescent Female with Type A Severe Insulin Resistance Syndrome
A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
research 1379 Cyclosporin A suppresses TGF-β2 expression via calcineurin/NFAT pathway in human dermal papilla cells
Cyclosporin A, a drug, reduces TGF-β2 expression in skin cells, potentially causing excessive hair growth through a process involving the calcineurin/NFAT pathway.
research Differential plasma proteome analysis reveals key proteins associated with insulin resistance in acne vulgaris patients
C4BPA protein may link acne severity and insulin resistance.
research 178 Neutrophil elastase is critical in linear IgA bullous dermatosis in mice
CD8+ T cells attack hair follicle stem cells, causing scarring and hair loss.
research STUDIES ON A SKIN CALCIFYING SYSTEM
Mild skin injury can trigger mineral deposits in rat skin, even without full calciphylactic response.