research STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
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930-960 / 1000+ resultsresearch The parathyroid hormone-related protein as a regulator of normal tissue functions
PTHrP regulates various normal body functions, including bone development, skin, and muscle function.
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.
research Suppression of Vitamin D Receptor and Induction of Retinoid X Receptor α Expression During Squamous Differentiation of Cultured Keratinocytes
As skin cells mature, vitamin D receptor levels decrease while retinoid X receptor α levels increase.
research An unexpected role for keratin 10 end domains in susceptibility to skin cancer
Keratin 10 end domains may increase skin cancer risk by reducing cell death.
research Pinkie, the First Viable Germline Hypomorph Allele of Retinoid X Receptor Alpha, Reveals an Important Role for RXRa in Th2 Development.
RXRa is crucial for Th2 immune cell development and may link nutrition to immune health.
research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.
The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
research BMP4 and nuclear laminC orchestrate a expression of AHF/Trichohyalin molecule, a key modulator of keratin intermediate filaments in the hair follicle
research Sgk3 links growth factor signaling to maintenance of progenitor cells in the hair follicle
Sgk3 is essential for normal hair follicle growth and maintenance.
research Construction and Verification of Recombinant Follicle-specific Expression Vector
The vector successfully directed specific gene expression in hair follicles.
research cDNA Cloning, Expression, and Assembly Characteristics of Mouse Keratin 16
Mouse and human keratin 16 can both form filaments, with differences likely due to the tail domain, not the helical domain.
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 Cytokeratin 19 expression in usual cutaneous carcinomas
CK 19 expression is higher in more severe skin cancers.
research Variation in the ovine keratin-associated protein 15-1 gene affects wool yield
Genetic variation in the KRTAP15-1 gene affects wool yield in sheep.
research 880 Triptolide (TRP), a diterpenoid, shows a strong efficacy and a safe profile in the topical treatment of actinic keratosis lesions in a UV-B-induced mouse model
Triptolide effectively and safely reduces actinic keratosis lesions in mice.
research 126 cAMP response element-binding protein 1 (CREB) is a β-catenin-regulated transcription factor in squamous cell carcinoma (SCC) cells
CREB, a protein that can promote cancer traits, is controlled by β-catenin in skin cancer cells.
research Characterisation, genomic organisation, expression and function of the mEphA1 receptor Tyrosine Kinase
mEphA1 receptor tyrosine kinase is important for skin and hair development and may play a role in certain diseases.
research Overexpression of protein kinase C-α in the epidermis of transgenic mice results in striking alterations in phorbol ester-induced inflammation and COX-2, MIP-2 and TNF-α expression but not tumor promotion
Overexpressing PKCα in mice skin increases inflammation but doesn't affect tumor growth.
research Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome
A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
research Specific receptor detection by a functional keratinocyte growth factor-immunoglobulin chimera.
A new protein was made to detect specific skin cell growth receptors and worked in normal skin but not in skin cancer cells.
research Pitfalls of PCR-Based Strategy for Genotyping Cre-Loxp Mice
PCR genotyping in cre-loxP mice can be inaccurate due to unintended gene deletions in non-target tissues.
research Patched1 Functions as a Gatekeeper by Promoting Cell Cycle Progression
Patched1 helps prevent tumors by controlling cell growth.
research Integrin-linked kinase inhibition via QLT0267 stops the epithelial outgrowth.
QLT0267 stops hair follicle cell growth and movement.
research Keratin 19 as a biochemical marker of skin stem cells in vivo and in vitro: keratin 19 expressing cells are differentially localized in function of anatomic sites, and their number varies with donor age and culture stage
Keratin 19 helps identify skin stem cells, with its presence varying by body location, age, and culture stage.
research Transposon control as a checkpoint for tissue regeneration
Controlling transposable elements is crucial for successful tissue regeneration.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease
Certain genetic variants in ERN1, TACR3, and SPPL2C are linked to when Alzheimer's disease starts.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research RSPO1, a potent inducer of pancreatic β cell neogenesis
RSPO1 could help create new diabetes treatments by increasing pancreatic β cells.
research The role of cathepsin E in terminal differentiation of keratinocytes
Cathepsin E is crucial for normal skin cell differentiation and development.
research Assembly of Hair Keratins in Transfected Epithelial Cells
Mouse hair keratins mHa1 and mHb4 can't form a strong network on their own in cells.