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.
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research An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves
A genetic variant in "Blonde d'Aquitaine" calves causes death at birth due to a missing protein.
research Structural insights into SARS-CoV-2 spike protein and its natural mutants found in Mexican population
Mutations in the spike protein affect drug binding and effectiveness.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research MON-369 Treatment of Nonclassic 11-Hydroxylase Deficiency with "Hair, Skin, and Nails," an Over-the-Counter, Insulin Sensitizing Vitamin/Mineral Supplement
An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
research The Synthesis of 2,2-BIS(1-INDOL-3-YL)Acenaphthylene-1(2)-Ones Using Nanocatalysis: Fluorescent Sensing for Cu2+ Ions
A new compound was made to detect copper ions effectively.
research Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix
research The protoporphyrin IX dimethyl ester incorporated soy lecithin for photoinactivation of fluconazole-resistant Candida albicans
research オルニチン・トランスカルバミラーゼ(OTC)欠損(spf・ash)マウスへのOTC遺伝子導入
Introducing the OTC gene improved symptoms in mice with OTC deficiency.
research Decision letter: The molecular basis for ANE syndrome revealed by the large ribosomal subunit processome interactome
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
research Repeatable Perming via Thiol–Michael Click Reaction: Using Amide Derived from Maleic Acid and Cystine
A new perming method is less damaging to hair and works as well as traditional methods.
research Unexpectedly high carrier rates and genotype/phenotype correlation; LIPH mutations in Japanese autosomal recessive woolly hair/hypotrichosis
Certain gene mutations in Japanese people are linked to different types of hair loss, with some causing mild hair thinning and others leading to complete baldness.
research Subepidermal Calcified Nodule
A calcified nodule on a boy's face came from hair follicles and expelled calcium through the skin.
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 Plastic Needle Shield: A Two-in-One Solution
The document's conclusion cannot be provided because the document is not accessible or understandable.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
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 Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
research Reply to: The ends of a conundrum?
K10 may not prevent tumors as previously thought and might increase benign tumor risk.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research NFIC promotes the vitality and osteogenic differentiation of rat dental follicle cells
NFIC helps rat dental cells grow and turn into bone-like cells.
research Child with De Novo t(1;6)(p22.1;p22.1) translocation and features of ectodermal dysplasia with hypodontia and developmental delay
A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
research Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2
Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
research CCDC47 gene and trichohepatoneurodevelopmental syndrome: Report of the fifth and sixth cases from Saudi Arabia
Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research ZnO@PDA@Ag Nanocomposite-Mediated Delivery of 9-Bromonoscapine, an Anticancer Agent, for Enhanced Lung Cancer Therapy
The nanocomposite effectively targets lung cancer cells without harming normal cells.
research Synthesis and structure–activity studies of side-chain derivatized arylhydantoins for investigation as androgen receptor radioligands
The nature of the side chain in RU 58841 derivatives greatly affects its AR affinity, with the N-(iodopropenyl) derivative 13 showing the highest AR binding affinity, suggesting its potential for developing high-affinity radioiodinated AR radioligands.
research A new heterozygous frameshift variant in keratin 10 resulting in ichthyosis hystrix in a father and daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
