research Impaired LEF1 Activation Accelerates iPSC-Derived Keratinocytes Differentiation in Hutchinson-Gilford Progeria Syndrome
Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
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GPC1 is important for hair growth by helping blood vessels form around hair follicles.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
research Isolation and characterization of genomic clones of human sequences presumably coding for hair cysteine-rich proteins
A new protein linked to hair strength was identified, aiding in understanding brittle hair conditions.
research NovelPAX9mutation associated with syndromic tooth agenesis
A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
research 307 Dermatologic toxicities associated with chronic gamma-secretase inhibitor treatment for desmoid tumor
Most patients experienced mild to moderate skin problems during a trial for a desmoid tumor treatment.
research Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study
Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
research 085 Coordinate expressions of cyclin-dependent kinase inhibitors and high sulfur protein in human hair follicles
research 783 Influence of TNF gene polymorphism in patients with acute and fulminnant hepatitis
research Genome-Wide Association Study for Udder Conformation Traits in Chinese Holstein Cattle
Certain genes affect udder shape in Holstein cows, important for health and milk production.
research Mice humanised for the EGF receptor display hypomorphic phenotypes in skin, bone and heart
Mice with human-like EGFR had growth issues, skin defects, heart problems, and unusual bone development.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Human epidermal transglutaminase. Preparation and properties.
The enzyme from human skin can cross-link proteins and needs calcium to work.
research Glutamate transporter Slc1a3 mediates inter‐niche stem cell activation during skin growth
The protein SLC1A3 is important for activating skin stem cells and is necessary for normal hair and skin growth in mice.
research Exploring Clinical and Imaging Differences in COVID-19: an Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
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 420 Alopecia in children and adults with cystic fibrosis on elexacaftortezacaftor-ivacaftor
research 486 Molecular Mechanisms of Type II Spiral Ganglion Neuron Development
research A case of monilethrix caused by novel compound heterozygous mutations in the desmoglein 4 (DSG4) gene
New mutations in the DSG4 gene cause a rare hair condition.
research Keratinocyte-specific ablation of the NF-κB regulatory protein A20 (TNFAIP3) reveals a role in the control of epidermal homeostasis
A20 protein is crucial for normal skin and hair development.
research Ultrahigh-Power Sonicator Lysis Enables Deep Proteomic Profiling of Hair Shafts for Fetal Growth Restriction Biomarker Discovery
A new method improves protein extraction from hair, helping identify potential biomarkers for fetal growth issues.
research Structure-guided PEGylated fibroblast growth factor 2 variants accelerate wound healing with improved stability
Compound 6 is a promising candidate for better wound healing.
research 881 Ionizing radiation triggers dedifferentiation of outer root sheath cells into stem cell-like progenitors for hair follicle regeneration
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 Abstract C4: Sp2: A regulator of stem cell differentiation and tumorigenesis
Over-expression of Sp2 can lead to cancer by preventing proper stem cell differentiation.
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 The HOXC13-controlled expression of early hair keratin genes in the human hair follicle does not involve TALE proteins MEIS and PREP as cofactors
research Association of a polymorphism in the ornithine decarboxylase gene with male androgenetic alopecia
research Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII
Mutations in specific genes cause certain congenital defects in dogs, aiding in understanding similar human diseases.