Search results for "SHIFT"

A Novel Homozygous Mutation in the Solute Carrier Family 26 Member 7 Gene Causes Thyroid Dyshormonogenesis in a Girl with Congenital Hypothyroidism

2020

We investigated the genetic cause of thyroid dyshormonogenesis in a girl with congenital hypothyroidism. Genetic analysis showed that she was homozygous for a hitherto not described mutation (c.1432_1433delGT, p.V478KfsX11) in the solute carrier family 26 member 7 (SLC26A7) gene. SLC26A7 is proposed to be an anion transporter in the thyroid gland. The mutation leads to a frameshift and a premature stop codon. The predicted protein is truncated and very likely to be nonfunctional if it was expressed at all. In addition, in silico studies predict the mutation to be pathogenic.

Molecular basis of mucopolysaccharidosis type II: Mutations in the iduronate-2-sulphatase gene

1993

A number of mutations in the X-chromosomal human iduronate-2-sulphatase gene have now been identified as the primary genetic defect leading to the clinical condition known as Hunter syndrome or mucopolysaccharidosis type II. The mutations that are tabulated include different deletions, splice-site and point mutations. From the group of 319 patients thus far studied by Southern analysis, 14 have a full deletion of the gene and 48 have a partial deletion or other gross rearrangements. All patients with full deletions or gross rearrangements have severe clinical presentations. Twenty-nine different "small" mutations have so far been characterised in a total of 32 patients. These include 4 nons…

A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family

2011

To cite this article: Ferraro MF, Moreno AS, Castelli EC, Donadi EA, Palma MS, Arcuri HA, Lange AP, Bork K, Sarti W, Arruda LK. A single nucleotide deletion at the C1 inhibitor gene as the cause of hereditary angioedema: insights from a Brazilian family.Allergy 2011; 66: 1384–1390. Abstract Background:  Hereditary angioedema is an autosomal dominant disease characterized by episodes of subcutaneous and submucosal edema. It is caused by deficiency of the C1 inhibitor protein, leading to elevated levels of bradykinin. More than 200 mutations in C1 inhibitor gene have been reported. The aim of this study was to analyze clinical features of a large family with an index case of hereditary angioe…

Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene

2017

Detection of a novel germline mutation in the von Hippel-Lindau tumour-suppressor gene by fluorescence-labelled base excision sequence scanning (F-BE…

1999

The von Hippel Lindau (VHL) syndrome is an inherited multi-tumour disorder characterised by clinical heterogeneity and high penetrance. The VHL gene has been shown to be a tumour-suppressor gene. A carrier of a germline mutation will be predisposed to a high variety of benign and malign tumours affecting different organ systems. As treatment of VHL malformations in presymptomatic stages will improve significantly the clinical outcome and the patient's quality of life, early and unambiguous detection of a germline mutation is mandatory. Direct sequencing especially of large genes might be laborious and time consuming. Therefore, most laboratories apply single strand conformational polymorphi…

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase

2013

Yunis-Varón syndrome (YVS) is an autosomal-recessive disorder with cleidocranial dysplasia, digital anomalies, and severe neurological involvement. Enlarged vacuoles are found in neurons, muscle, and cartilage. By whole-exome sequencing, we identified frameshift and missense mutations of FIG4 in affected individuals from three unrelated families. FIG4 encodes a phosphoinositide phosphatase required for regulation of PI(3,5)P(2) levels, and thus endosomal trafficking and autophagy. In a functional assay, both missense substitutions failed to correct the vacuolar phenotype of Fig4-null mouse fibroblasts. Homozygous Fig4-null mice exhibit features of YVS, including neurodegeneration and enlarg…

Foreste a tavola:i consumi alimentari inducono la crescente deforestazione tropicale e sub-tropicale anche in Italia

2021

L’agricoltura costituisce da sempre una grande minaccia per gli ecosistemi naturali del nostro pianeta,e non solo in quanto attività umana essenziale per la produzione di cibo. Attualmente, in particolarenella regione tropicale e sub-tropicale, le attività agricole sono fattori di pressione cruciali per il mantenimentodei cicli di vita di ecosistemi essenziali per la biosfera, complessi e resilienti, come le foreste. Lesocietà contemporanee, essenzialmente urbane e sempre più disconnesse dai processi naturali ed ecologici,tendono a dimenticare, o semplicemente non considerare, le responsabilità di queste pressioni insostenibili.Tra le maggiori cause di deforestazione, quattro commodities ri…

Decomposing regional business change at plant level in Italy: A novel spatial shift-share approach

2013

type="main" xml:lang="es"> En este articulo se analiza la descomposicion espacial de cambios (shift-share) aplicada a datos italianos sobre cambios en los negocios regionales a nivel de planta, durante el periodo 2004–2009. Aqui se introduce un nuevo tipo de descomposicion espacial, que gestiona mas eficazmente la influencia del vecindario. De la investigacion empirica aparecen resultados notables. En primer lugar, se observo que el nivel de agregacion espacial afecta grandemente los resultados. En segundo lugar, se encontraron pruebas de una ventaja de vecindario en las regiones meridionales NUTS 3, a la vez que resultados opuestos para las regiones centro-norte NUTS 3. Finalmente, solo se…

The Impact of a Change in Employment on Three Work-Related Diseases: A Retrospective Longitudinal Study of 10,530 Belgian Employees

2020

BACKGROUND: The literature that has investigated to what extent a change in employment contributes to good health is contradictory or shows inconsistent results. The aim of this study was to investigate whether an association exists between a change in employment and cardiovascular, musculoskeletal and neuropsychological diseases in a sample of 10,530 Belgian workers in a seven-year follow-up study period. METHODS: The following factors were analysed: Demographic variables, a change in employment and the work-related risks. Individuals being on medication for cardiovascular, musculoskeletal, and neuropsychological diseases were used as proxies for the three health issues. Logistic regressio…

355 Night shift work and prostate cancer risk in a population-based case-control study in Spain

2013

Objectives Recent epidemiologic and animal data indicate that night work may increase the risk of cancer and specifically breast cancer. There is limited evidence on other hormone related cancers. We evaluated prostate cancer risk and night shift work in a population based case-control study in Spain, the MCC-Spain. Methods Incident prostate cancer cases (n = 1117) and randomly selected population controls (n = 1165) were enrolled in 7 regions of Spain. Lifetime occupational history including details on shift work, and information on lifestyle factors were assessed by face-to-face interviews. We estimated the risk of different shift profiles using unconditional logistic regression models ad…