-
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adultsGraham, Randall B. ...Rationale: Approximately 10% of patients who have a spontaneous pneumothorax have a positive family history. Objectives: We sought to identify DNA sequencevariations that confer susceptibility to ... pneumothoraces. Methods: We collected 12 families that had at least 2 first-degree relatives with a spontaneous pneumothorax. All affected family members had no obvious stigmata of known genetic disorders associated with pneumothoraces. We used haplotype analysis, DNA sequencing, and restriction fragment analysis of mutations to evaluate the individuals in these families. Main Results: In 2 of the 12 families the disorder cosegregated with markers flanking a candidate locus, FLCN. Sequencing the linked alleles revealed 2 mutations predicted to introduce premature stop codons in 2 of the 12 families. Most mutations in FLCN cause a rare disease, Birt-Hogg-Dube syndrome, characterized by autosomaldominant inheritance of multiple benign skin lesions, renal tumors, pulmonary blebs, and pneumothoraces. None of the family members with the nonsense mutations had the skin manifestations of Birt-Hogg-Dube syndrome or renal cancer. Pathologic examination of lung tissue from three affected nonsmokers revealed blebs and underlying emphysema. Conclusions: Isolated familial spontaneous pneumothorax can be caused by mutations of the FLCNgene. Because development of a pneumothorax and/or pulmonary blebs may be the earliest or the only clinical manifestation of FLCN mutations, pulmonologists should be alert to the contribution of this gene toward this familial form of emphysema.Vir: American journal of respiratory and critical care medicine. - ISSN 1073-449X (Letn. 172, 2005, str. 39-44)Vrsta gradiva - članek, sestavni delLeto - 2005Jezik - angleškiCOBISS.SI-ID - 20199129
Avtor
Graham, Randall B. |
Nolasco, Melissa |
Peterlin, Borut, 1963- |
Garcia, Christine Kim
Teme
Pneumothorax |
Genetics |
Pulmonary Emphysema |
Genetics |
Estrone |
Codon, Nonsense |
Adult |
Middle Age |
Pedigree |
Sequence Analysis, Rna |
Questionnaires |
Proteins |
Genetics |
Polymorphism, Restriction Fragment Length |
Longitudinal Studies |
Haplotypes |
Genes, Dominant |
Sex Factors |
Estron |
Kodon nesmiselni |
Pljučni emfizem |
Pnevmotoraks |
Ankete |
Beljakovine |
Geni dominantni |
Haplotipi |
Longitudialne študije |
Odrasli |
Polimorfizem, omejene dolžine fragmentov |
Rodovnik |
Spolni faktorji |
Srednja leta |
Zaporedje, analiza, RNA
![loading ... loading ...](themes/default/img/ajax-loading.gif)
![loading ... loading ...](themes/default/img/ajax-loading.gif)
![loading ... loading ...](themes/default/img/ajax-loading.gif)
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|---|
Graham, Randall B. | ![]() |
Nolasco, Melissa | ![]() |
Peterlin, Borut, 1963- | 10458 |
Garcia, Christine Kim | ![]() |
Izberite prevzemno mesto:
Prevzem gradiva po pošti
Obvestilo
Gesla v Splošnem geslovniku COBISS
Izbira mesta prevzema
Mesto prevzema | Status gradiva | Rezervacija |
---|
Prosimo, počakajte trenutek.