research Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Pegvaliase is recommended for treating adults with phenylketonuria.
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870-900 / 1000+ results research Tβ4-overexpression based on the piggyBac transposon system in cashmere goats alters hair fiber characteristics
Overexpressing Tβ4 in cashmere goats improves hair fiber traits and increases cashmere yield.
research Improved Humidity-Resistant Hair Straightening Using a Cysteamine-Derived Amino Acid Compound
A cysteamine-derived compound helps hair stay straight in high humidity.
research A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type
A mutation in the KRTHB5 gene causes hair and nail issues.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research STIM1 R304W in mice causes subgingival hair growth and an increased fraction of trabecular bone
The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
research Baldness and the androgen receptor: the AR polyglycine repeat polymorphism does not confer susceptibility to androgenetic alopecia
AR polyglycine repeat doesn't cause baldness.
research Clinical Snippets
A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
research Expression of the guinea-pig alpha-lactalbumin gene in transgenic mice
The guinea pig α-lactalbumin gene was successfully expressed in the mammary glands of transgenic mice.
research A Short Peptide GPIGS Promotes Proliferation of Hair Bulb Keratinocytes and Accelerates Hair Regrowth in Mice
The peptide GPIGS helps hair cells grow and speeds up hair regrowth in mice.
research Reduction mechanism of L‐cysteine on keratin fibers using microspectrophotometry and Raman spectroscopy
L-cysteine slows down the breaking of bonds in hair due to electrostatic interactions.
research No evidence for THAP1/DYT6 variants as disease modifiers in DYT1 dystonia
THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Melanocytes from the outer root sheath of human hair and epidermal melanocytes display improved melanotic features in the niche provided by cGEL, oligomer-cross-linked gelatin-based hydrogel
cGEL hydrogel improves melanin production in skin cells, making it a promising option for skin treatments.
research Connexin 26 (GJB2) mutations in keratitis–ichthyosis–deafness syndrome presenting with squamous cell carcinoma
Connexin-26 gene mutations may increase cancer risk in KID syndrome patients.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research Effects of Dietary Selenium Yeast Supplementation in Pregnant Cashmere Goats on the Development of Offspring Hair Follicles
Giving selenium yeast to pregnant goats leads to better hair growth and cashmere quality in their babies.
research Homozygous missense mutation in theLIPHgene causing autosomal recessive hypotrichosis simplex in a Chinese patient
A specific gene mutation causes a rare hair loss condition in a Chinese patient.
research Long‐read sequencing reveals SVA insertion in AP3B1 causing Hermansky–Pudlak syndrome 2
research 688 Precise and efficient editing of the COL7A1 gene in RDEB derived iPSCs with CRISPR/Cas9 and prime editing
CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.
research Development of a new therapeutic approach based on peptide nanoparticles delivering CRISPR-Cas9 for the specific targeting of KRAS mutations
Peptide nanoparticles can effectively deliver CRISPR-Cas9 to target KRAS mutations in cancer.
research Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
research Metabolic Engineering of Microorganisms to Produce L-Aspartate and Its Derivatives
Scientists can use engineered microbes to make L-aspartate and related chemicals, but there's still room to improve their efficiency.
research Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
Mutations in the HOXC13 gene cause hair and nail development issues.
research Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Mapping the accessibility of the disulfide crosslink network in the wool fiber cortex
Cysteines in wool fibers are accessible and form important disulfide bonds.
research The slick hair coat locus maps to chromosome 20 in Senepol-derived cattle
The gene for slick hair in Senepol cattle is located on chromosome 20 and may involve the SRD5A2 gene.
research Nucleocytoplasmic Communication in Progeria
Defective nuclear transport may cause gene expression changes in Progeria.
research Transglutaminase-mediated cross-linking in mammalian epidermis
research Modulating the stem cell niche for tissue regeneration
Changing the environment around stem cells could help tissue repair, but it's hard to be precise and avoid side effects.