research Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic variants in specific genes cause central centrifugal cicatricial alopecia.
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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 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research ELL Facilitates RNA Polymerase II–Mediated Transcription of Human Epidermal Proliferation Genes
ELL is crucial for gene transcription related to skin cell growth.
research The targeted overexpression of a Claudin mutant in the epidermis of transgenic mice elicits striking epidermal and hair follicle abnormalities
research PLCD1 and Pilar Cysts
The research linked PLCD1 gene variants to the development of trichilemmal cysts.
research Identification of two novel clusters of ultrahigh-sulfur keratin-associated protein genes on human chromosome 11
Two new gene clusters important for hair formation were found on human chromosome 11.
research Regulation of Hair Shedding by the Type 3 IP3 Receptor
The type 3 IP3 receptor is important for controlling hair loss and growth.
research Co-factors of LIM domains (Clims/Ldb/Nli) regulate corneal homeostasis and maintenance of hair follicle stem cells
Clim proteins are essential for maintaining healthy corneas and hair follicles.
research Identification and characterization of the hamster polyomavirus middle T antigen
The hamster polyomavirus middle T antigen is linked to tumors in hamsters and associates with a specific tyrosine kinase.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research PBX1-SIRT1 positive feedback loop attenuates ROS-mediated HF- MSC senescence and apoptosis
PBX1 reduces aging and cell death in stem cells by boosting SIRT1 and lowering PARP1.
research Association of single nucleotide polymorphisms in the RAB5B gene 3′UTR region with polycystic ovary syndrome in Chinese Han women
Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
research Integrated Lipidomics in the Secreted Phospholipase A2 Biology
Different sPLA2 enzymes have unique roles in phospholipid metabolism and biological processes.
research Author response: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
Defective protein folding due to a mutation is key in ANE syndrome.
research 314 Molecular genetic dissection of ILVEN leads to successful targeted therapy
Targeted therapy with Ustekinumab significantly improved a skin condition called ILVEN, which is caused by mutations in the CARD14 gene.
research LB1671 Large-scale skin scRNA-seq profiling highlights distinct body site-specific ligand-receptor interactions and pathways in keratinocytes
Different body areas have unique skin cell communication patterns, explaining why certain skin diseases occur in specific regions.
research Faculty Opinions recommendation of Expression of truncated latent TGF-beta-binding protein modulates TGF-beta signaling.
Truncated LTBP-1 disrupts TGF-beta signaling, affecting hair growth.
research 464 Phenotypic heterogeneity of epidermolysis bullosa associated with the recurrent pathogenic variant p.(Arg2000Trp) in plectin
The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
research CUBIC Protocol Visualizes Protein Expression at Single Cell Resolution in Whole Mount Skin Preparations
The CUBIC protocol allows detailed 3D visualization of proteins in mouse skin biopsies.
research Insertional mutation of the hairless locus on mouse Chromosome 14
A gene mutation in mice causes permanent hair loss and skin issues.
research Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome
There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Advances in molecular pathogenesis of hidradenitis suppurativa: Dysregulated keratins and ECM signaling
Recent findings suggest that genetic factors, immune system issues, and skin cell defects might contribute to the development of hidradenitis suppurativa.
research 458 UVB-induced facultative pigmentation is associated with distinct DNA methylation changes
Tanning ability is linked to specific DNA changes in skin genes.
research Phospholipase A2 in skin biology: new insights from gene-manipulated mice and lipidomics
Phospholipase A2 enzymes play key roles in skin health and disease.
research Removing all obstacles: A critical role for p53 in promoting tissue renewal
The gene p53 is crucial for removing damaged cells to allow for healthy tissue renewal.
research 415 IL-17C: Checkpoint in innate skin immunology
IL-17C is important in inflammatory skin diseases and could be a target for treatment.
research The Wave complex controls epidermal morphogenesis and proliferation by suppressing Wnt–Sox9 signaling
The Wave complex controls skin growth by suppressing certain signals.
research The abnormal, mis-localizated HR bmh protein associates with members of the protein processing machinery in the cytoplasm
The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.