research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
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research The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant
The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
research An observational analysis of erythromelanosis follicularis faciei et colli
EFFC might be common but underreported.
research Abstract 12: LGR6+ Epithelial Stem Cell Augmentation of Fracture Healing
LGR6+ stem cells may improve bone healing.
research AKR1D1 regulates glucocorticoid availability and glucocorticoid receptor activation in human hepatoma cells
AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts
CRISPR gene editing reduces harmful molecules in cells from Emery–Dreifuss Muscular Dystrophy patients.
research A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Clinical and molecular features in a cohort of Middle Eastern patients with epidermolysis bullosa
Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
research Erosive Pustular Dermatosis of the Scalp: A Case Report and Review of the Literature
Systemic retinoids may effectively treat erosive pustular dermatosis of the scalp.
research Role of estrogen receptor signaling in the control of the hair follicle cycle
Estrogen and its receptors play a key role in hair growth, with differences between males and females.
research Identification of a recurrent nonsense mutation in HR gene responsible for atrichia with papular lesions in two Kashmiri families
A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
research Store-operated calcium channels in skin
Calcium channels are vital for normal skin function and their dysfunction can lead to skin issues.
research Search for the Crucial Extracellular Nucleotide Receptor: Kinase Receptor DORN1’s Role in the eATP and eADP Stomatal Signaling Pathways in Arabidopsis thaliana
DORN1 receptor affects eATP-induced stomatal changes but not eADP in Arabidopsis thaliana.
research eLife assessment: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and proper nerve connection to touch receptors in certain skin areas of mice.
research Electron beam tomography quantitation of coronary calcium and assessment for ischemic coronary disease: a complement to stress testing
Electron Beam Tomography (EBT) is a useful additional test to stress testing for detecting heart disease.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Alopecia areata in a patient with psoriatic arthritis and C rohn's disease receiving etanercept
Etanercept improved arthritis and psoriasis but caused hair loss, which healed after switching to sulfasalazine.
research Obesity resistance of the stearoyl-CoA desaturase-deficient (scd1 -/-) mouse results from disruption of the epidermal lipid barrier and adaptive thermoregulation
Deleting the scd1 gene in mice prevents obesity by disrupting skin lipids and improving heat regulation.
research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research MLL histone methylases in estrogen‐mediated regulation of HOX genes involved in hair follicle development and leukemia
Estrogen and MLL enzymes work together to regulate genes important for hair growth and leukemia.
research Genome Wide Differential Expression Profiles in Nevus Sebaceous Uncovered Low Expression of CDKN2AIP and Construction of a ceRNA Network
CDKN2AIP gene is less active in nevus sebaceous, affecting related RNA networks.
research Erosive pustular dermatosis of the scalp and multiple sclerosis: just a coincidence?
EPDS and MS might share an immune-related cause.
research Potential Role of the Epidermal Differentiation Complex in the Pathogenesis of Psoriasis
The role of certain genes in skin cell development may be linked to psoriasis, but the connection is unclear.
research CLED: A Calcium-Linked Protein Associated with Early Epithelial Differentiation
research The mouse frizzy (fr) and rat ‘hairless’ (frCR) mutations are natural variants of protease serine S1 family member 8 (Prss8)
The frizzy mouse and hairless rat mutations are due to changes in the Prss8 gene.
research Systemic Lupus Erythematosus in India: A Clinico-Serological Correlation
Early identification of lupus through skin signs and blood tests is crucial in India.
research Effect of 150 kHz electromagnetic radiation on the development of polycystic ovaries induced by estradiol Valerate in Sprague Dawley rats
150 kHz electromagnetic radiation might help improve PCOS in rats.