research Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis
A new gene mutation linked to a skin condition was found in a Spanish family.
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120-150 / 1000+ results research Human Peptidylarginine Deiminase Type III: Molecular Cloning and Nucleotide Sequence of the cDNA, Properties of the Recombinant Enzyme, and Immunohistochemical Localization in Human Skin
PAD3 plays a key role in hair and skin protein structure and may be linked to skin diseases.
research Mechanism of Laccase-assisted Tyrosine Grafting on Keratin using BSA as a Model Protein
New hair perming method using tyrosine is gentler and can be done with a blow-dryer.
research 481 Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia
Genetic changes in specific proteins contribute to hair loss in some women of African descent.
research Glutamic acid promotes hair growth in mice
Glutamic acid helps mice grow hair.
research A case of MBTPS1 ‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research Aberrant amino acid metabolism promotes neurovascular reactivity in rosacea
Abnormal amino acid metabolism may worsen rosacea symptoms.
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 G.P.2.16 Valproate, acetylcarnitine, folic acid and vitamin B12 in spinal muscular atrophy: Preliminary data of an open-label study in children
The treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may improve muscle strength in children with SMA without significant side effects.
research Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
Mutations in the SNRPE gene cause hereditary hair loss.
research Mutation in 5′ upstream region of GCH I gene causes familial dopa-responsive dystonia
A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
research Protein disulphide isomerase-mediated grafting of cysteine-containing peptides onto over-bleached hair
PDI helps restore over-bleached hair's strength and structure by attaching special peptides.
research THE N- AND C-TERMINAL END GROUPS OF HAIR KERATIN
Human and horse hair have similar end groups to wool and feathers.
research A frameshift mutation in the TRPS1 gene showing a mild phenotype of trichorhinophalangeal syndrome type 1
A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
research Reply
The Thr1022Ala variant in the hairless gene is not a disease-causing mutation.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
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 Significance of the polyglutamine tract polymorphism in the androgen receptor
The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
research Physiologic functions of PP2A: Lessons from genetically modified mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Improved 2α-Hydroxylation Efficiency of Steroids by CYP154C2 Using Structure-Guided Rational Design
Mutants of CYP154C2 enzyme significantly improved steroid conversion efficiency.
research Detection of a Novel Missense Mutations in Atrichia with Papular Lesions
Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
research Increased dipicolinic acid production with an enhanced spoVF operon in Bacillus subtilis and medium optimization
Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
research Inhibition of a signaling modality within the gp130 receptor enhances tissue regeneration and mitigates osteoarthritis
Blocking a certain signal in the gp130 receptor can improve tissue healing and lessen osteoarthritis symptoms.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Hair and amino acids: the interactions and the effects.
Amino acids in conditioners improve hair strength, hydration, and color retention.
research The β9 Loop Domain of PA-PLA1α Has a Crucial Role in Autosomal Recessive Woolly Hair/Hypotrichosis
A specific mutation in PA-PLA1α causes abnormal hair growth.
research Trans glutaminase-mediated cross-linking in mammalian epidermis
research Decision letter: Structural basis of malodour precursor transport in the human axilla
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.