research Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD)
C-scores can help predict gain-of-function and loss-of-function mutations.
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research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Various Three-Dimensional Culture Methods and Cell Types for Exosome Production
research Glycogen phase separation drives macromolecular rearrangement and asymmetric division in E. coli
Glycogen helps E. coli cells divide unevenly and organize their contents.
research A Male with an Erythema, Pustules, and Crusts on the Scalp
A rare scalp condition was successfully treated with specific medications after 9 months.
research Interaction of the vacuolar H+-pyrophosphatase AVP1 with the secondary transporters AtNHX1 and SOS1 in Arabidopsis thaliana: Implications in salt tolerance and mineral nutrition
Overexpressing AVP1 and AtNHX1 in plants improves salt tolerance and root hair development.
research Exosome laden sprayable thermo-sensitive polysaccharide-based hydrogel for enhanced burn wound healing
The hydrogel improves burn healing by promoting tissue growth and reducing inflammation.
research Primary Involvement of NADPH Oxidase 4 in Hypoxia-Induced Generation of Reactive Oxygen Species in Adipose-Derived Stem Cells
NADPH oxidase 4 is key for stem cell activity and growth under low oxygen.
research 603 Pathological modeling of epidermolysis bullosa simplex (EBS) using induced pluripotent stem cells (iPSC)
Scientists used stem cells to create a model of the skin disease Epidermolysis Bullosa simplex, which helped them understand its molecular mechanisms and could aid in finding treatments.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
research 20 Exosomes derived from adipose tissue-derived mesenchymal stem cells (ASCE) for the treatment of dupilumab-related facial redness in patients with atopic dermatitis
Adipose stem cell exosomes can effectively reduce facial redness and improve skin health in atopic dermatitis patients.
research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
research Obsessive-compulsive skin disorders: a novel classification based on degree of insight
The new classification system for skin disorders emphasizes the importance of understanding a patient's awareness of their condition for better treatment.
research Solubilizing steroidal drugs by β-cyclodextrin derivatives
Using β-cyclodextrin derivatives improves the solubility and bioavailability of steroidal drugs.
research A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome
A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
research Adipose Tissue–Derived Exosomes as a Novel Therapeutic Approach for Refractory Alopecia Areata: A Report of Two Cases
Adipose tissue-derived exosomes may help regrow hair in alopecia areata.
research A new model for cyclophosphamide-induced alopecia and its manipulation by cyclosporine a and topical dexamethasone
research Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess
Some women with PCOS have CYP21 mutations and IRS1 variants, but these genetic factors are not major contributors to PCOS.
research Athena: Speciality Certificate Examination case for formulation and systemic therapy
The document discusses a special exam case for formulating and using systemic therapy named Athena.
research Studying Cytotoxic T-lymphocyte- Associated Antigen-4 (CTLA-4) gene Polymorphism in a Sample of Iraqi Women with Polycystic Ovarian Syndrome
The CTLA-4 gene polymorphism does not affect polycystic ovarian syndrome.
research A Homozygous Frameshift Mutation in theHOXC13Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family
A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
research Ornithine decarboxylase is a target for chemoprevention of basal and squamous cell carcinomas in Ptch1+/– mice
Targeting ornithine decarboxylase can help prevent skin cancer.
research Whole-genome sequencing of eight goat populations for the detection of selection signatures underlying production and adaptive traits
Researchers identified genes linked to coat color, body size, cashmere production, and high altitude adaptation in goats.
research Eruptive vellus hair cysts in an unusual location with atypical pathological features
A young man had a rare case of hair cysts on his elbows, which was hard to diagnose and treat.
research Preparation and Evaluation of Self-emulsifying Drug Delivery System (SEDDS) of Cepharanthine
research Erosive Pustular Dermatosis of the Scalp: Clinicopathological Correlation Leading to a Definition of Diagnostic Criteria
Chronic scalp lesions with crusts and pus that heal with strong topical steroids suggest Erosive Pustular Dermatosis, confirmed by biopsy showing specific immune cells.
research Why we should treat COVID-19 Long-Hauler Syndromes with Convalescent Plasma; Contained Suppressive Exosomes are likely COVID antigen-specific
Convalescent Plasma Therapy may help treat COVID-19 Long-Hauler symptoms.
research A Mosaic Hotspot PLCD1 Variant, Detectable in Blood‐Derived DNA , Associated With Nevus Trichilemmocysticus
A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
research 461 Identification of a Novel Pathogenic XPC:c.2420+1G>C Variant in a Patient with Xeroderma Pigmentosum
A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.