research Valproic acid monotherapy induced longitudinal melanonychia
Valproic acid can cause dark lines on nails.
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research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series
The NUDT15 gene variant causes severe side effects from azathioprine in some Indian patients.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study
Screening for the NUDT15 gene variant can prevent severe side effects from thiopurine drugs in East-Asian people.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Computational screening of repurposed drugs and natural products against SARS-Cov-2 main protease (Mpro) as potential COVID-19 therapies
Some existing drugs and natural products might work against COVID-19 by targeting the virus's main protease.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
A new mutation in the KRT86 gene causes a hair disorder with variable expression.
research The role of candidate pharmacogenetic variants in determining valproic acid efficacy, toxicity and concentrations in patients with epilepsy
Genetic variants can affect valproic acid's effectiveness, side effects, and levels in epilepsy treatment.
research Presence of a Deletion Mutation (c.716delA) in the Ligand Binding Domain of the Vitamin D Receptor in an Indian Patient with Vitamin D-Dependent Rickets Type II
A genetic mutation caused severe rickets and alopecia in an Indian patient, but high-dose calcium and phosphate treatment improved their condition.
research A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
A specific gene mutation causes different hair defects in Indian monilethrix families.
research Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
Researchers found a non-functional sheep keratin gene due to mutations.
research 197 A novel splice site mutation in LIPH identified in a Japanese patient with autosomal recessive woolly hair
Researchers found a new genetic mutation linked to a hair condition in a Japanese boy.
research Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Facile One-Pot Synthesis of Substituted Hydantoins from Carbamates
Scientists in India found a safer and efficient way to make a type of medicine called hydantoins from carbamates, which also worked well in making the seizure medicine, Ethotoin.
research Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
research Mesenchymal cell replacement corrects thymic hypoplasia in murine models of 22q11.2 deletion syndrome
Replacing defective mesenchymal cells with normal ones fixes thymic growth issues in 22q11.2DS mouse models.
research A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
research Pharmacophore Modeling and Three Dimensional Database Searching for Drug Design Using Catalyst: Recent Advances
The document concludes that Catalyst software is effective for drug design, identifying potent compounds for various medical conditions.
research BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION
Biotin treatment can significantly improve hair loss and motor functions in certain metabolic disorders.
research Irreversible and severe alopecia following docetaxel or paclitaxel cytotoxic therapy for breast cancer
Docetaxel and paclitaxel for breast cancer can cause permanent, severe hair loss.
research Mechanisms of hepatocyte attachment to keratin biomaterials
Human liver cells stick to hair protein materials mainly through the liver's asialoglycoprotein receptor.
research Targeted therapy in melanoma
New treatments for advanced skin cancer are improving patient outcomes, but drug resistance and finding the right treatment combinations are still big challenges.
research Stimulation of elastin expression by minoxidil in chick skin fibroblasts
Minoxidil boosts elastin production, potentially helping skin diseases.
research Wear characteristics of epoxy based hybrid composites reinforced with short hair fibers and glass micro spheres
Adding human hair fibers and glass micro-spheres to epoxy improves its wear resistance and strength.
research The Cutaneous Side Effects of Selective BRAF Inhibitors and Anti-CTLA4 Agents: the Growing Role of the Dermatologist in the Management of Patients with Metastatic Melanoma
Dermatologists are crucial for managing skin side effects in metastatic melanoma patients using vemurafenib and ipilimumab.
research Platelet Immune Interactions, Lifespan, and Senescence
Platelets play a key role in the immune system and their lifespan and aging are important for developing new treatments.
research Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism
A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
research Physical and mechanical properties of the hair shaft: A review of measurement techniques to verify the efficacy of cosmetic products
Different techniques measure hair properties to ensure cosmetic products work.