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Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder due to the deficiency of-L-iduronidase (IDUA). Severely affected patients show coarse faces, hepatosplenomegaly and mental retardation. Mild cases have...

Based upon observations on 48 cases of retinoblastoma and published reports, the hypothesis is developed that retinoblastoma is a cancer caused by two mutational events. In the dominantly inherited form, one mutation is ...

Parkinson's disease (PD) is a common neurodegenerative disorder with a lifetime incidence of approximately 2 percent. A pattern of familial aggregation has been documented for the disorder, and it was recently reported t...

Immune checkpoint inhibitors, which unleash a patient's own T cells to kill tumors, are revolutionizing cancer treatment. To unravel the genomic determinants of response to this therapy, we used whole-exome sequencing of...

Materie / parole chiave: Biology; Cancer research; Somatic cell; Kinase; Mutation; Point mutation; Gene; Missense mutation; Cancer; Protein kinase domain; Cell growth; Genetics

Materie / parole chiave: Derecho; General

IntroductionThe T cell receptor excision circle (TREC) assay is an effective neonatal screening tool for severe combined immunodeficiency (SCID), enabling early diagnosis and timely intervention. While genetic analysis o...

The nematode Caenorhabditis elegans is an established model organism for studying neurobiology. UNC-63 is a C. elegans nicotinic acetylcholine receptor (nAChR) α-subunit. It is an essential component of the levamisole-s...

Background Juvenile‐onset spinocerebellar ataxia has been recognized in Jack Russell Terriers and related Russell group terriers (RGTs) for over 40 years. Ataxia occurs with varying combinations of myokymia, seizures,...

Background A variety of presumed hereditary, neurologic diseases have been reported in young Rottweilers. Overlapping ages of onset and clinical signs have made antemortem diagnosis difficult. One of these diseases, neur...

Context: Signal transducer and activator of transcription 5b (STAT5b) deficiency, first reported in a patient who carried a p.Ala630Pro missense mutation in the Src homology 2 (SH2) domain, results in a rare clinical con...

Abstract Background/Objectives Dilated cardiomyopathy (DCM) is characterized by heart failure and cardiac dilation, distinguishing it from ischemic and non-ischemic heart diseases. To date, more than 50 genes have been i...

Abstract An 18‐month‐old intact male Schnauzer dog was evaluated for chronic, lifelong respiratory tract infections that were unresponsive to administration of a variety of antibiotics and corticosteroids. The dog de...

ABSTRACT Bacillus subtilis CpgA (circularly permuted GTPase) is a ribosome assembly GTPase that has a secondary function as a metabolite proofreading enzyme. CpgA hydrolyzes 4-phosphoerythronate, a toxic metabolite produ...

The population of early-onset Alzheimer’s disease (EOAD) accounts for 1%–2% of the total population of Alzheimer’s disease, and genetic mutations are more common in EOAD. The first symptom of the patient in the pre...

Abstract Background Rifampicin-resistant tuberculosis (RR-TB) remains a major challenge for TB control in Malawi, particularly in densely populated districts such as Blantyre. Most rifampicin resistance is caused by muta...

Abstract Precise identification of low-frequency EGFR L858R mutations is crucial for targeted therapy and prognosis in non-small cell lung cancer (NSCLC). Here, we present CIRCLE-F/V (CRISPR-based Integrated Restriction-...

ABSTRACT Background and Aims The KCNK17 gene encodes k2p17.1 channels (TASK‐4 or TALK‐2) with dominant expressions in the atria and the Purkinje fibers. Emerging studies have suggested possible associations between K...

Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder characterized by deficient production, secretion, or action of gonadotropin-releasing hormone (GnRH), the central regulator of the reproductive axis. We r...

Background Primary ciliary dyskinesia (PCD) is generally a recessively inherited disorder characterized by dysfunction of motile cilia. A mutation in a new causative gene (CCDC39) has been identified in the Old English S...

Atypical hemolytic uremic syndrome (aHUS) is a disorder characterized by a propensity to thrombotic microangiopathy (TMA) due to defective regulation of the alternative complement pathway. Mutations in genes encoding com...

Background: ERBB2 aberrations are established oncogenic drivers with validated therapeutic relevance in breast cancer and emerging indications across solid tumors. In gastrointestinal malignancies, the prevalence, molecu...

BackgroundRare epidermal growth factor receptor (EGFR) mutations have a low incidence, and their response to EGFR tyrosine kinase inhibitors (TKI) has not been sufficiently studied. L747P is a rare EGFR mutation located ...

Fifteen female canines with mammary tumors and 6 normal females were used to study mutations in exons 4 to 8 of the p53 gene. DNA samples from the tumors, respective adjacent normal mammary tissue and mammary glands from...