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.
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research Epidermolysis Bullosa
Epidermolysis bullosa is an inherited condition causing fragile skin with no cure, managed by wound care and experimental treatments show promise.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Expression of Uncoupling Proteins in Human Skin and Skin-Derived Cells
research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
research Barley disease susceptibility factor RACB acts in epidermal cell polarity and positioning of the nucleus
RACB in barley is crucial for cell polarity and nucleus positioning, aiding fungal infection.
research A Neonate with Blisters
The newborn was diagnosed with a rare skin disorder causing blisters, which requires careful wound care and family support.
research JOLT: A Noninvasive Solution for the Correction of the Jowl
JOLT uses fillers to lift and tighten the lower face and neck.
research B-219 Apoptotic effect and cell cycle arrest by Juniperus communis extract on oral cancer
Juniperus communis extract enhances the effectiveness of oral cancer treatment when combined with chemotherapy.
research Case Report: Baricitinib improved alopecia areata in a pediatric patient with atopic dermatitis
Baricitinib significantly improved hair regrowth and skin condition in a 14-year-old with alopecia areata and atopic dermatitis.
research Developing the Breast Utility Instrument to Assess Health-related Quality of Life and Preferences in Patients with Breast Cancer
The Breast Utility Instrument was developed to assess quality of life in breast cancer patients.
research Grp1-associated scaffold protein regulates skin homeostasis after ultraviolet irradiation
Grasp protein helps maintain skin health after UVB exposure.
research The Pharmacological Potential of Bioactive Components of Zizypus jujuba Seeds: A Review
Jujube seeds have many health benefits and could be a valuable natural remedy.
research KNUCKLE HYPERPIGMENTATION AS A PRELIMINARY MARKER OF VITAMIN B 12 DEFICIENCY: A CASE SERIES
Knuckle darkening can be an early sign of vitamin B12 deficiency.
research Brain and muscle Arnt-like protein-1 (BMAL1) controls circadian cell proliferation and susceptibility to UVB-induced DNA damage in the epidermis
BMAL1 controls skin cell growth and UV damage risk, peaking at night.
research Expanding the phenotype: Four new cases and hope for treatment in Bachmann‐Bupp syndrome
Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
research 81 Juvenile RHUPUS syndrome: a case reports
RHUPUS should be considered in children with deforming arthritis.
research 44180 Influence of Baseline Disease Severity Defined by Investigator’s Global Assessment on Abrocitinib Efficacy for up to 96 Weeks in Patients With Moderate-to-Severe Atopic Dermatitis: Interim Analysis of JADE EXTEND, a Long-Term Extension Study
research Baricitinib Therapy for Moderate to Severe Alopecia Areata: A Retrospective Review of 95 Japanese Patients
research Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation
A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
research 689 Cell-type-specific nascent transcriptomics through PRECISE-seq reveal molecular principles of tissue dynamics
research Renbök phenomenon in a child: A new case and review of paediatric cases
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research CRISPR/Cas9-Mediated Generation of COL7A1-Deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa.
Scientists created a cell model to study and find treatments for a skin disease called RDEB.
research A Congenital Hair Defect: Trichoschisis With Alternating Birefringence and Low Sulfur Content
research Characterization of Bsk mice: I. The Bsk mutation does not involve a recombination of cornea-specific keratin 12 and skin-specific hair keratin genes.
The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
research Expression of the Scube3 epidermal growth factor-related gene during early embryonic development in the mouse
Scube3 gene affects mouse embryo growth in multiple areas, but needs more research.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.