research Carbobenzoxy-capped Phe-Lys(BODIPY TMR-X-acyloxymethyl ketone(QSY7)
Near-infrared probes can safely and effectively image cysteine protease activity for disease diagnosis.
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330-360 / 1000+ resultsresearch Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
Mutations in the DSG4 gene cause fragile, sparse hair in humans, mice, and rats.
research Effect of longtime selenium-deficient feeding on the neurobehavioral development of the fourth generation rats in lactation.
Selenium and iodine deficiencies cause delayed growth and abnormal neural behavior in rats.
research Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
research Phospholipase C 1 is required for skin stem cell lineage commitment
Phospholipase Cδ1 is crucial for normal skin and hair development.
research Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
A new gene mutation causes vitamin D-resistant rickets and hair loss in two siblings.
research A Case of Relapsed Leprosy Successfully Treated With Sparfloxacin
A man's relapsed leprosy was successfully treated with the antibiotic sparfloxacin.
research A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis
A gene deletion in DSG4 causes sparse hair in some Pakistani families.
research Editorial: Software survey section
research Hereditary Chorea Associated With and Aggravated by Systemic Lupus Erythematosus
A girl with hereditary chorea, likely Huntington's disease, had her condition worsened by lupus.
research Cloning of a Functional Vitamin D Receptor from the Lamprey (Petromyzon marinus), an Ancient Vertebrate Lacking a Calcified Skeleton and Teeth
Lampreys have a functional vitamin D receptor that may help detoxify harmful substances.
research Serine-rich ultra high sulfur protein gene expression in murine hair and skin during the hair cycle
research In Situ Self-Assembling Liver Spheroids with Synthetic Nanoscaffolds for Preclinical Drug Screening Applications
PCL nanoscaffold-based liver spheroids are effective for drug screening and studying liver toxicity.
research SbbHLH85, a bHLH Member, Modulates Resilience to Salt Stress By Regulating Root Hair Growth in Sweet Sorghum
The SbbHLH85 protein helps sweet sorghum grow more root hairs but makes the plant more sensitive to salt.
research MOF-mediated Histone H4 Lysine 16 Acetylation Governs Mitochondrial and Ciliary Functions By Controlling Gene Promoters
MOF controls skin development by regulating genes for mitochondria and cilia.
research Correction of ornithine transcarbamylase (OTC) deficiency in spf‐ash mice by introduction of rat OTC gene
Introducing the rat OTC gene partially corrected OTC deficiency in mice.
research Lineage‐specific requirements of Alx4 function in craniofacial and hair development
ALX4 is crucial for normal craniofacial and hair development, with specific roles in different cell types.
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 First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
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 Cardiac biopsy in myocarditis
Some people have a genetic variation that makes them less effective at breaking down drugs.
research Extracellular matrix sensing by FERONIA and Leucine‐Rich Repeat Extensins controls vacuolar expansion during cellular elongation in Arabidopsis thaliana
FERONIA and LRX proteins help control cell growth in plants by regulating vacuole expansion.
research Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation
Desmoglein 4 is controlled by specific proteins that affect hair growth.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research 778 Designing and utilizing a c-Rel specific bioassay in drug repurposing screen for HNSCC
A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
research FLCN, a novel autophagy component, interacts with GABARAP and is regulated by ULK1 phosphorylation
The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
research Molecular cloning and characterization analysis of LEF-1 gene from Inner Mongolia Cashmere Goat
The LEF-1 gene in cashmere goats was successfully cloned and analyzed, showing potential for improving cashmere production.
research 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research BRCA2 in abscission
The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
research Identification of seven new prostate cancer susceptibility loci through a genome-wide association study
Seven new genetic risk areas for prostate cancer were found.