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810-840 / 1000+ resultsresearch 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
research Cisd2 deficiency impairs neutrophil function by regulating calcium homeostasis via Calnexin and SERCA
Lack of Cisd2 disrupts calcium balance in cells, leading to poorly functioning neutrophils.
research Inheritance of Some Electrophoretic Phenotypes of Human Hair
Human hair protein patterns are inherited genetically.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research A new locus for hereditary hypotrichosis simplex maps to chromosome 13q12.12∼12.3 in a Chinese family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation
N-WASP is essential for healthy skin and preventing inflammation.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Mitogen‐regulated protein/proliferin mRNA induction following single applications of tumor promoters to murine skin
mrp/plf-mRNA can indicate tumor-promoting effects in skin.
research Pallister-Killian Syndrome
Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
research Novel genes and variants associated with longevity in Bulgarian centenarians revealed by whole exome sequencing DNA pools: a pilot study
Certain genes may help Bulgarians live longer.
research The Expressions Rules of Wnt10b and SFRP2 Gene in Skin of Wanxi Angora Rabbit
Wnt10b promotes hair growth, while SFRP2 inhibits it in Wanxi Angora rabbits.
research A Mutation in the Serum and Glucocorticoid-Inducible Kinase-Like Kinase (Sgkl) Gene is Associated with Defective Hair Growth in Mice
A mutation in the Sgkl gene causes defective hair growth in mice.
research Role of bulge epidermal stem cells and TSLP signaling in psoriasis
Blocking TSLP reduces skin inflammation and cell overgrowth in psoriasis.
research An Integrated Analysis of Cashmere Fineness lncRNAs in Cashmere Goats
lncRNA XLOC_008679 and gene KRT35 affect cashmere fineness in goats.
research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
research Nail Proximal Fold Stem Cells (NPFSCs) Participate In Nail Growth, Orchestrating Enhanced Digit Regeneration via BMP Signaling Activation
Nail stem cells help nail and finger regeneration through BMP signaling.
research Two familial cases of Olmsted-like syndrome with a G573V mutation of theTRPV3gene
A new genetic mutation in the TRPV3 gene causes Olmsted-like syndrome in a Mongolian family.
research GPX4 mRNA levels in the PMNs are negatively correlated with autoantibody production, disease activity and lupus alopecia in SLE
Lower GPX4 mRNA levels are linked to higher disease activity and symptoms in lupus patients.
research Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation
Eyebrow follicles are best for accurate genetic testing after stem cell transplants.
research 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank
Rare genetic variants in 125 genes are linked to male-pattern hair loss.
research Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
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 RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Promotion of homology-directed DNA repair by polyamines
Polyamines help fix DNA damage accurately in cells.
research 1347 Updated skin transcriptomic atlas depicted by reciprocal contribution of single-nucleus RNA sequencing and single-cell RNA sequencing
The research updated the skin cell profile, finding new skin cell markers and showing fibroblasts' key role in skin health.
research Stimuli-responsive nanoformulations for CRISPR-Cas9 genome editing
Advancements in nanoformulations for CRISPR-Cas9 genome editing can respond to specific triggers for controlled gene editing, showing promise in treating incurable diseases, but challenges like precision and system design complexity still need to be addressed.
research Abstract 2474: The mechanistic role of polyamines in DNA double-strand break repair
Polyamines help repair DNA breaks and may influence cancer development.