research Self-Amplifying RNA Approach for Protein Replacement Therapy
Self-amplifying RNA could be a better option for protein replacement therapy with lower doses and lasting effects, but delivering it into cells is still challenging.
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research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Synthesis of a new amino acid derivative with long‐lasting hair shape control effects and elucidation of its mechanisms
A new amino acid derivative, ATS, improves hair texture and moisture, making it easier to straighten curly hair.
research Functional characterization and unraveling the structural determinants of novel steroid hydroxylase CYP154C7 from Streptomyces sp. PAMC26508
CYP154C7 enzyme can effectively modify steroids and is promising for commercial use.
research Case 3: The Hypothermic Newborn
The infant with a urea cycle disorder improved with treatment and a liver transplant.
research L-Ornithine ketoacid-transaminase assay in hair roots of homozygotes and heterozygotes for gyrate atrophy
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 SAT0200 UNUSUAL SYSTEMIC LUPUS ERYTHEMATOSUS/SJOEGREN'S SYNDROME PHENOTYPE IN A PATIENT WITH A TNFAIP3 GENE MUTATION
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
research A second KRT 71 allele in curly coated dogs
A new gene variant causes curly coats in some dog breeds.
research Identification of the Ovine Keratin-Associated Protein 22-1 (KAP22-1) Gene and Its Effect on Wool Traits
The gene KAP22-1 affects wool yield and fiber shape in sheep.
research Azathioprine-induced Agranulocytosis and Severe Alopecia After Kidney Transplantation Associated With a NUDT15 Polymorphism: A Case Report
A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
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 Activated Polyamine Catabolism Depletes Acetyl-CoA Pools and Suppresses Prostate Tumor Growth in TRAMP Mice
Overexpressing SSAT enzyme reduces prostate tumor growth in mice.
research Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript
A new mutation in the HR gene causes hair loss in a specific family.
research Multi-ancestry tandem repeat association study of hair colour using exome-wide sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Comment on 'A prospective real world study evaluating serum levels of arginine and cysteine in females with chronic telogen effluvium: do we really need blanket prescription with amino acid supplementation?'
Amino acid supplements may not be necessary for all women with chronic hair loss.
research The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
Sphynx cats are hairless and Devon Rex cats have curly hair due to specific genetic mutations.
research Association of Anti-Signal Recognition Particle Myopathy with Systemic Lupus Erythematosus
Anti-SRP myopathy can be linked to systemic lupus erythematosus and may improve with specific treatment.
research A BIOCHEMICAL MARKER IN A DOMINANT MOUSE TRAIT
The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
research Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria
Enzyme replacement therapy improved multiple symptoms of homocystinuria in mice.
research Association of Gly972Arg variant of insulin receptor subtrate-1 and Gly1057Asp variant of insulin receptor subtrate-2 with polycystic ovary syndrome in the Chinese population
The IRS-2 Asp/Asp genotype may increase the risk of PCOS in Chinese women, especially if they are not obese.
research Identification of llama KRTAP7-1 and KRTAP8-1 fiber genes and polymorphism screening
Mutations in specific llama genes may affect fiber quality for textiles.
research CAG polymorphism in the androgen receptor gene in women may be associated with nodulocystic acne
Certain gene variations might be linked to severe acne in women but not in men.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Correlation Analysis of BLTP1 (KIAA1109) and KIF27 Gene Polymorphisms with Wool Traits in Subo Merino Sheep
BLTP1 and KIF27 gene mutations can help breed better wool sheep.
research Identification of the KAP27-1 gene in sheep and its effect on wool traits
The KRTAP27-1 gene variations in sheep may affect wool length and weight.
research Association between EGF and EGFR Gene Polymorphisms and Susceptibility to Alopecia Areata in the Korean Population
Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research Prevalence of MMP-1 rs1799750 Polymorphism in Androgenetic Alopecia: A Cross-Sectional Study in an Indonesia Population
There is no significant link between the MMP-1 rs1799750 polymorphism and androgenetic alopecia in the Indonesian population.
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.