research P-18 THREE BODY PROBLEM PATIENT: EHLER DANLOS SYNDROME COMBINED WITH HYPOPHOSPHATASIA AND FATTY ACID OXIDATION DEFECT
Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
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research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research Candidate SNP markers of reproductive potential are predicted by a significant change in the affinity of TATA-binding protein for human gene promoters
Certain genetic markers linked to reproductive potential were identified by their impact on a protein's ability to bind to genes.
research A temperature-sensitive FERONIA mutant allele that alters root hair growth
A mutant FERONIA gene affects root hair growth at high temperatures.
research Analyse de la régulation du gène Hairless et identification des voies de signalisation affectées chez les mutants «bald Mill Hill».
The mutant HR bmh protein affects hair follicle formation by failing to repress vitamin D receptor activity.
research Exploring climate adaptation in European Merino sheep: a landscape genomics approach
Certain genes in European Merino sheep help them adapt to different climates.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Glycome profiling by lectin microarray reveals dynamic glycan alterations during epidermal stem cell aging
Aging changes sugar molecules on skin stem cells, which may affect their ability to repair skin.
research 0873 Modeling junctional epidermolysis bullosa using tissue-engineered skin substitutes
Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.
research Epidermal Polarity Genes in Health and Disease
Disruptions in epidermal polarity genes can lead to skin diseases.
research Sex-limited chromosomes and non-reproductive traits
Sex-limited chromosomes can affect traits not related to reproduction.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Immunolocalization of Epidermal Growth Factor Receptors in Normal Developing Human Skin
research Necl2 regulates epidermal adhesion and wound repair
Necl2 affects skin cell behavior and slows wound healing.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research In-vivo dedifferentiation of keratinocytes to epidermal stem cells
Keratinocytes might turn into stem cells, but more research is needed to confirm this.
research Stretching the limits: from homeostasis to stem cell plasticity in wound healing and cancer
Stem cell plasticity is crucial for wound healing but can also contribute to cancer development.
research Defining stem cell dynamics and migration during wound healing in mouse skin epidermis
Stem cells help heal wounds by rapidly dividing and migrating to the wound edge.
research 304 Sephardic Ancestry in Recessive Dystrophic Epidermolysis Bullosa Individuals Carrying the Prevalent c.6527insC Mutation
Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Trichoblastic Carcinoma (“Malignant Trichoblastoma”) with Lymphatic and Hematogenous Metastases
Long-standing benign tumors can become cancerous, especially in people with weakened immune systems.
research Lentiviral Arrays for Live-cell Dynamic Monitoring of Gene and Pathway Activity During Stem Cell Differentiation
The lentiviral array can monitor and predict gene activity during stem cell differentiation.
research Chaperones as thermodynamic sensors
New cancer treatments show promise in reducing tumor growth and improving skin regeneration in mice.
research Mediator 1 ablation induces enamel-to-hair lineage conversion in mice through enhancer dynamics
Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
research 874 Chromatin architectural protein CTCF controls epidermal barrier formation, hair follicle fate maintenance and suppresses inflammatory responses in the skin epithelium
The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
research Uloga folikularnih matičnih stanica u patofiziologiji alopecije areate
Alopecia areata is reversible because hair follicles can regenerate due to stem cells.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Moniletrix. Observación de esta infrecuente displasia pilosa en dos hermanos. Reporte clínico y dermatoscópico
Monilethrix is a genetic hair disorder affecting hair shape, seen in two brothers.
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research Human Epidermal Neural Crest Stem Cells (hEPI-NCSC)—Characterization and Directed Differentiation into Osteocytes and Melanocytes
Human epidermal neural crest stem cells can become bone and skin pigment cells, making them useful for therapies.