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Nanotecnologie e rilascio di droghe

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  • First Common Gene Found For Congenital Heart ...
    L'esistenza del Reale Rischio Congenito di CAD, noto da anni, rappresenta l'aspetto biologico delle mutazioni genetiche scoperte recentemente ed è la ... Vai al commento

  • New Step In Protein Production Could Explain ...
    I find this paper really interesting, but not useful from clinical view point. As a matter of fact, General Practititoners need CLINICAL tool, reliabl... Vai al commento

  • Lack Of Energy-Regulating Gene Caused Mice To...
    To Genetics News From Medical News Today: Veritas Filia Temporis (Aulo Gello, II Century a. Ch) Since 30 years about I am unhearded emphasising that,.... Vai al commento

  • Consumer Information on: VIDAS fPSA rt Assay ...
    La diagnosi di cancro della prostata è clinica, a partire dal suo Reale Rischio CONGENITO. 1) Stagnaro-Neri M., Stagnaro S. Introduzione alla Semeioti... Vai al commento

Diagnosi
Risky business: getting a grip on BRIP
Scritto da Journal of Medical Genetics current issue   
Biochimica

BRIP1 is one of several DNA damage response genes that have been implicated in both Fanconi Anaemia and hereditary breast and ovarian cancer. BRIP1 binds to the BRCT1 C-Terminus (BRCT) domain and functions in BRCA1-dependent DNA repair and ... ...

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No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground

BRCA1 interacting protein C-terminal helicase 1 (BRIP1) is one of the Fanconi Anaemia Complementation (FANC) group family of DNA repair proteins. Biallelic mutations in BRIP1 are responsible for FANC group J, and p ... ...

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Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground

We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe developmental delay.

Methods

In 400 patients wi ... ...

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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground

Laminins are heterotrimeric complexes, consisting of α, β and subunits that form a major component of basement membranes and extracellular matrix. Laminin complexes have different, but often overlapping, distr ... ...

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A specific mutation in TBL1XR1 causes Pierpont syndrome
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground

The combination of developmental delay, facial characteristics, hearing loss and abnormal fat distribution in the distal limbs is known as Pierpont syndrome. The aim of the present study was to detect and study the cause ... ...

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Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground

Inherited cystic kidney disorders are a common cause of end-stage renal disease. Over 50 ciliopathy genes, which encode proteins that influence the structure and function of the primary cilia, are implicated in cystic kid ... ...

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Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2
Scritto da Journal of Medical Genetics current issue   
BiochimicaBackground

Facioscapulohumeral muscular dystrophy (FSHD) is associated with an epigenetic defect on 4qter. Two clinically indistinguishable forms of FSHD are known, FSHD1 and FSHD2. FSHD1 is caused by contraction of the highly polym ... ...

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