research Keratin 71 Mutations: From Water Dogs to Woolly Hair
A mutation in the KRT71 gene causes a hair disorder by disrupting hair follicle structure and texture.
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research Characterisation of Myotonic Dystrophy type I cell models and drug evaluation by a cell- based quantification platform.
Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.
research Valproate-Associated Transaminitis and Rhabdomyolysis
Valproic acid can cause muscle damage and liver issues, which improve after stopping the drug.
research A nonsense variant in KRT31 is associated with autosomal-dominant monilethrix
A variant in the KRT31 gene causes a rare hereditary hair disorder called monilethrix.
research Lithium: one drug, five complications
Lithium poisoning can cause severe health complications and requires careful monitoring.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research RSPO1-mutated keratinocytes from palmoplantar keratoderma display impaired differentiation, alteration of cell–cell adhesion, EMT-like phenotype and invasiveness properties: implications for squamous cell carcinoma susceptibility in patients with 46XX disorder of sexual development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research USO DO MINOXIDIL PARA TRATAMENTO DE ALOPECIA ANDROGENÉTICA
Low-dose oral minoxidil is effective and generally safe for treating hair loss in women.
research Porokeratotic Eccrine Duct and Hair Follicle Nevus (PEHFN) Associated with Keratitis-Ichthyosis-Deafness (KID) Syndrome
A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
research Eosinophilic Pleuropericardial Effusion due to Valproic Acid
Valproic acid can cause a rare allergic reaction leading to fluid around the lungs and heart, which is treatable by changing medication.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Granular Parakeratosis of the Eccrine Ostium: A Case Report
Accurate diagnosis of granular parakeratosis is crucial for effective treatment and improvement.
research P6590Androgenic effects on ventricular repolarization: a translational study from pharmacovigilance databases to iPSC-cardiomyocytes
Androgen-deprivation therapies increase the risk of certain heart conditions, but testosterone treatment may help.
research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
research Valproic acid – induced Pleuro-pericardial Effusion
Valproic acid can rarely cause fluid buildup around the lungs and heart.
research Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets
A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
research Alginate and its application to tissue engineering
Alginate is great for tissue engineering because it's safe, easy to use, and helps heal tissues.
research Identification of Stem Cell Populations in Sweat Glands and Ducts Reveals Roles in Homeostasis and Wound Repair
The study found that sweat glands contain different types of stem cells that help with healing and maintaining healthy skin.
research Follow-up of Nutritional and Metabolic Problems After Bariatric Surgery
Patients need long-term care after bariatric surgery to manage potential nutritional and metabolic issues.
research Effect of minoxidil on proliferation and apoptosis in dermal papilla cells of human hair follicle
Minoxidil boosts hair growth by increasing cell production and survival.
research Comma hairs: A dermatoscopic marker for tinea capitis
Comma hairs are a specific sign of tinea capitis when viewed with videodermatoscopy.
research Oral Spironolactone for Acne Vulgaris in Adult Females: A Hybrid Systematic Review
Oral spironolactone's effectiveness for adult female acne is not well-supported by strong evidence.
research Clinical Use of a Protein-Sparing Modified Fast
The Protein-Sparing Modified Fast is effective for rapid weight loss and maintaining it, but requires medical supervision and can have side effects.
research Topical application of Polygonum multiflorum extract induces hair growth of resting hair follicles through upregulating Shh and β-catenin expression in C57BL/6 mice
Polygonum multiflorum extract helps grow hair by activating certain hair growth signals in mice.
research Procyanidin Oligomers Selectively and Intensively Promote Proliferation of Mouse Hair Epithelial Cells In Vitro and Activate Hair Follicle Growth In Vivo11The authors disclosed conflict of interest.
Procyanidin compounds from grape seeds were found to significantly increase mouse hair growth.