research CaBP1 and 2 enable sustained CaV1.3 calcium currents and synaptic transmission in inner hair cells
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
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research 877 Loss of UBE2N in keratinocytes leads to skin inflammation and immune infiltration through IRAK1/4-mediated processes
Removing UBE2N from skin cells causes inflammation and immune response, which can be lessened with specific inhibitors.
research A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
A new mutation in the KRT86 gene causes monilethrix in a Han family.
research CXCL12 Drives Reversible Fibroimmune Remodeling in Androgenetic Alopecia Revealed by Single-Cell RNA Sequencing
Blocking CXCL12 can reverse hair loss and fibrosis in androgenetic alopecia.
research Building Models for Keratin Disorders
Krt16-deficient mice help understand skin disorders like PC and FNEPPK.
research A 4kb Fragment of the Desmocollin 3 Promoter Directs Reporter Gene Expression to Parakeratotic Epidermis and Primary Hair Follicles
A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.
research Toll-like Receptor 3 Agonist, Polyinosinic-polycytidylic Acid, Upregulates Carbonic Anhydrase II in Human Keratinocytes
A substance called poly(I:C) increases a protein called carbonic anhydrase II in skin cells, which might help with skin defense and healing.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research 706 Engrailed-1 promotes eccrine sweat gland development in permissive environments
The Engrailed-1 gene plays a key role in the development of sweat glands in mice.
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 SOCS1 and SOCS3 as key checkpoint molecules in the immune responses associated to skin inflammation and malignant transformation
SOCS1 and SOCS3 help control skin inflammation and are important for developing treatments for skin diseases.
research A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction (NSTEMI)
A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
research RETRACTED ARTICLE: Up-regulated lncRNA5322 elevates MAPK1 to enhance proliferation of hair follicle stem cells as a ceRNA of microRNA-19b-3p
A specific RNA increases hair stem cell growth and skin healing by affecting a protein through interaction with a microRNA.
research TCL1 transgenic mouse model as a tool for the study of therapeutic targets and microenvironment in human B-cell chronic lymphocytic leukemia
The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Compound Heterozygous Mutations in Forkhead Box N1 (FOXN1) Lead to a Severe Immunodeficiency but Normal Hair and Nail Development in Patients
Mutations in the FOXN1 gene cause severe immune issues but don't affect hair and nails.
research XEDAR activates the non-canonical NF-κB pathway
XEDAR triggers a specific signaling pathway in cells.
research 575 Senescent atrophic epidermis retains Lrig1+ stem cells and loses Wnt signaling, a phenotype shared with CD44KO mice
research Epidermal Wnt/β-catenin signaling regulates adipocyte differentiation via secretion of adipogenic factors
Epidermal Wnt/β-catenin signaling controls fat cell formation and hair growth.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
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 Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Screening and Expression of Keratin EST in Xinji Fine Wool Sheep
Four keratin genes are crucial for hair growth in Xinji fine wool sheep.
research Studies on basal cell carcinoma with emphasis on the role of the human homologue of the Drosophila patched gene
PTCH gene mutations contribute to basal cell carcinoma development.
research Analysis of Sequences Controlling Tissue-Specific and Hyperproliferation-Related Keratin 6 Gene Expression in Transgenic Mice
K6 gene expression can be controlled and manipulated in mice for studying skin disorders.
research 085 Post-translational regulation of hair keratins in transfected COS-1 cells
research Decision letter: Lhx2 is a progenitor-intrinsic modulator of Sonic Hedgehog signaling during early retinal neurogenesis
Lhx2 helps retinal cells respond to signals for eye development.
research Noggin overexpression inhibits eyelid opening by altering epidermal apoptosis and differentiation
Noggin overexpression delays eyelid opening by affecting cell death and skin cell development.