Natalie C Jones

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Treacher Collins syndrome (TCS) is a congenital disorder of craniofacial development arising from mutations in TCOF1, which encodes the nucleolar phosphoprotein Treacle. Haploinsufficiency of Tcof1 perturbs mature ribosome biogenesis, resulting in stabilization of p53 and the cyclin G1-mediated cell-cycle arrest that underpins the specificity of(More)
Neural crest cells are a migratory cell population that give rise to the majority of the cartilage, bone, connective tissue, and sensory ganglia in the head. Abnormalities in the formation, proliferation, migration, and differentiation phases of the neural crest cell life cycle can lead to craniofacial malformations, which constitute one-third of all(More)
BACKGROUND & AIMS Biallelic mutations in the base excision DNA repair gene MUTYH lead to MUTYH-associated polyposis (MAP) and predisposition to colorectal cancer (CRC). Functional studies have demonstrated significant differences in base recognition and glycosylase activity between various MUTYH mutations, notably for the 2 mutations most frequently(More)
BACKGROUND & AIMS MUTYH-associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation of extracolonic manifestations has been reported. METHODS A large cohort of MAP patients was recruited from a European multicenter study. Data were collected on 276 cases from 181 unrelated families.(More)
It has been proposed that multiple rare variants in numerous genes collectively account for a substantial proportion of multifactorial inherited predisposition to a variety of diseases, including colorectal adenomas (CRA). We have studied this hypothesis by sequencing the adenomatous polyposis coli (APC) gene in 691 unrelated North American patients with(More)
To determine the prevalence of thecagA gene and vacuolating cytotoxin inHelicobacter pylori isolates obtained from children and to characterize the relationship betweencagA, cytotoxin production, and ulcerogenesis, pediatricHelicobacter pylori isolates were tested forcagA by the polymerase chain reaction and for vacuolating cytotoxin by a cell culture(More)
BACKGROUND Yawning consistently poses a conundrum to the medical profession and neuroscientists. Despite neurological evidence such as parakinesia brachialis oscitans in stroke patients and thermo-irregulation in multiple sclerosis patients, there is considerable debate over the reasons for yawning with the mechanisms and hormonal pathways still not fully(More)
The amino acid requirements of seven strains of Staphylococcus aureus isolated from cases of bovine mastitis were determined. Arginine, cystine, glycine, leucine, proline and valine were essential for the growth of all isolates. In addition, all isolates required one or more of the following: glutamic acid, histidine, isoleucine, lysine, methionine,(More)
BACKGROUND & AIMS MUTYH-associated polyposis (MAP) is an autosomal recessive disorder caused by mutations in the MUTYH gene. Patients with MAP are at extremely high risk of colorectal cancer, but the risks of colorectal and other cancers in heterozygous carriers of a single MUTYH mutation are uncertain. We performed a retrospective study of cancer incidence(More)
Anomalies associated with the vertebrate head and face account for a third of all reported major birth defects. Of the principle cell populations that participate in formation of the craniofacial complex, the neural crest is central, generating much of the peripheral nervous system and constituting the predominant connective tissue-forming mesenchyme of the(More)