research Novel frameshift mutation in TRPS1 in a ukrainian patient with trichorhinophalangeal syndrome type I
A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
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research 5-Aminolevulinic acid improves chicken sperm motility
5-Aminolevulinic acid can help chicken sperm move better at the right amount.
research The influence of valproic acid treatment on hair and serum zinc levels and serum biotinidase activity
Valproic acid treatment may cause temporary hair loss due to reduced zinc and biotinidase levels, which tend to normalize after 6 months.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant
Long-read RNA sequencing can identify complex gene changes in IFAP syndrome.
research Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome
A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
research Effects of vinblastine and its metabolites on nausea and alopecia associated receptors
Vinblastine and its metabolites may cause nausea and hair loss by binding to specific receptors and could lead to better chemotherapy drugs with fewer side effects.
research A Small Deletion Hotspot in the Type II Keratin GenemK6irs1/Krt2-6gon Mouse Chromosome 15, a Candidate for Causing the Wavy Hair of the Caracul (Ca) Mutation
The mK6irs1/Krt2-6g gene likely causes wavy hair in mice.
research Novel splice site mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis: Case report and published work review
A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
research Valproic acid boosts hair follicle stem cell resilience to oxygen-glucose deprivation through autophagy induction and AKT/mTOR suppression
Valproic acid helps hair follicle stem cells survive better in low oxygen and glucose conditions.
research 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
research Valproate in the Treatment of Persistent Chronic Daily Headache. An Open Label Study
Valproate significantly improved headaches in two-thirds of patients.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research From gene to therapy in spinal and bulbar muscular atrophy: Are we there yet?
Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.
research Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth
Biotin and acetazolamide improved hair and nail growth, mental function, and reduced headaches in a child with autism.
research Effect of lentivirus-mediated miR-182 targeting FGF9 on hallux valgus
miR-182 may help treat hallux valgus by targeting FGF9.
research The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
The rhg mutation in mice affects the Oat gene, causing hair growth issues and other symptoms.
research Cloning, computational analysis and expression profiling of steroid 5 alpha-reductase 1 (SRD5A1) gene during reproductive phases and ovatide stimulation in endangered catfish, Clarias magur
The research identified and described a gene important for hormone conversion in endangered catfish, which varies in activity during different reproductive stages and after hormone treatment.
research Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
African American men with prostate cancer have more androgen receptor mutations, which may lead to more aggressive cancer compared to Caucasian American men.
research Application of Automated mRNA In Situ Hybridization for Formalin-fixed, Paraffin-embedded Mouse Skin Sections
Combining cell conditioning with mild protease digestion effectively shows versican mRNA in mouse skin sections.
research Isolated Amylase Deficiency as a Cause of Failure to Thrive
Isolated amylase deficiency can cause failure to thrive and should be checked with specific tests.
research Methotrexate/tacrolimus/voriconazole
A 65-year-old man developed a serious skin cancer linked to a drug he was taking for a fungal infection after a bone marrow transplant.
research Synthesis of 4-amidinoimidazoles incorporating a cyanamide moiety : novel precursors for biologically important purines
research Study of association between valproic acid levels, biotinidase activity and hair loss in Indian population: A cross-sectional comparative study
Valproic acid treatment may cause hair loss due to reduced biotinidase activity.
research Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy—A clue for homocystinuria
Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.
research Intra-host SARS-CoV-2 single-nucleotide variants emerged during the early stage of COVID-19 pandemic forecast population fixing mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research Design, Synthesis and Anxiolytic Activity Evaluation of N-Acyltryptophanyl- Containing Dipeptides, Potential TSPO Ligands#
The compound GD-23 may reduce anxiety like diazepam by targeting the TSPO receptor.
research De Novo Design of Anti-Aging Peptides
New peptides can delay aging and improve cell function.
research Investigating the synergic effects of valproic acid and crocin on BDNF and GDNF expression in epidermal neural crest stem cells
Valproic acid and crocin together boost cell growth and may help treat nerve injuries.
research Association between Serum Brain-derived Neurotrophic Factor and 25-OH Vitamin D Levels with Vitamin D Receptors Gene Polymorphism (rs2228570) in Patients with Autoimmune Thyroiditis and Hypothyroidism
The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.