Mevalonate kinase deficiency: current perspectives
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 20, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Genetic basis of Cowden syndrome and its implications for clinical practice and risk management
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 12, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Utilization of genetic testing among children with developmental disabilities in the United States
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - July 11, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Alagille syndrome: clinical perspectives
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 30, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Role of elosulfase alfa in mucopolysaccharidosis IVA
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - June 14, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Marfan syndrome: current perspectives
Guglielmina Pepe,1,2 Betti Giusti,1,2 Elena Sticchi,1,2 Rosanna Abbate,1,2 Gian Franco Gensini,1–3 Stefano Nistri2,4 1Department of Experimental and Clinical Medicine, Section of Critical Medical Care and Medical Specialities, DENOTHE Center, University of Florence, 2Cardiothoracovascular Department, Marfan Syndrome and Related Disorders Regional Referral Center, Careggi Hospital, 3Santa Maria agli Ulivi, Fondazione Don Carlo Gnocchi, Onlus, Institute for Cancer Research and Treatment, Florence, 4Cardiology Service, CMSR Veneto Medica, Altavilla Vicentina, Italy Abstract: Marfan syndrome (MFS) is a pleiotropic conne...
Source: Application of Clinical Genetics - May 9, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Perspectives on Marfan syndrome
Pepe G, Giusti B, Sticchi E, Abbate R, Gensini GF, Nistri S (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 8, 2016 Category: Genetics & Stem Cells Source Type: research
Genetics of Lafora progressive myoclonic epilepsy: current perspectives
Miljana Kecmanović,1 Milica Keckarević-Marković,1 Dušan Keckarević,1 Galina Stevanović,2 Nebojša Jović,2 Stanka Romac,1,† 1Faculty of Biology, Center for Human Molecular Genetics, 2Clinic of Neurology and Psychiatry for Children and Youth, School of Medicine, University of Belgrade, Belgrade, Serbia †Stanka Romac passed away on December 13, 2015 Abstract: Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of ...
Source: Application of Clinical Genetics - May 2, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Lafora disease current perspectives
Kecmanović M, Keckarević-Marković M, Keckarević D, Stevanović G, Jović N, Romac S (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 1, 2016 Category: Genetics & Stem Cells Source Type: research
Natural killer cells and single nucleotide polymorphisms of specific ion channels and receptor genes in myalgic encephalomyelitis/chronic fatigue syndrome
Conclusion: We identified a number of SNPs and genotypes for TRP ion channels and AChRs from isolated NK cells in patients with ME/CFS, suggesting these SNPs and genotypes may be involved in changes in NK cell function and the development of ME/CFS pathology. These anomalies suggest a role for dysregulation of Ca2+ in AChR and TRP ion channel signaling in the pathomechanism of ME/CFS. Keywords: chronic fatigue syndrome, myalgic encephalomyelitis, transient receptor potential ion channels, acetylcholine receptors, genotypes (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - March 30, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
NK cells and SNPs in specific ion channels and AChR genes in MECFS
Marshall-Gradisnik S, Huth T, Chacko A, Johnston S, Smith P, Staines D (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - March 30, 2016 Category: Genetics & Stem Cells Source Type: research
Analysis of the CFTR gene in Venezuelan cystic fibrosis patients, identification of six novel cystic fibrosis-causing genetic variants
This study determined the frequency of common CFTR gene mutations in a group of Venezuelan patients with CF. The 27 exons of the CFTR gene from 110 Venezuelan patients in the National CF Program were amplified and sequenced. A total of 36 different mutations were identified, seven with frequencies greater than 1%: p.Phe508del (27.27%), p.Gly542* (3.18%), c.2988+1G.A (3.18%), p.Arg334Trp (1.36%), p.Arg1162* (1.36%), c.1-8G.C (1.36%), and p.[Gly628Arg;Ser1235Arg](1.36). In 40% of patients, all with a clinical diagnosis of CF, no mutations were found. This report represents the largest cohort of Venezuelan patients with CF ev...
Source: Application of Clinical Genetics - March 8, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Six novel mutations cystic fibrosis causing in Venezuelan patients
Sánchez K, de Mendonca E, Matute X, Chaustre I, Villalón M, Takiff H (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - March 7, 2016 Category: Genetics & Stem Cells Source Type: research
Emery & ndash;Dreifuss muscular dystrophy: a test case for precision medicine
(Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 24, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Emery–Dreifuss muscular dystrophy: a test case for precision medicine
De-Ann M Pillers,1 Nicholas H Von Bergen21Division of Neonatology and Newborn Medicine, 2Division of Cardiology, Department of Pediatrics, University of Wisconsin-Madison, Madison, WI, USAAbstract: Emery–Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of scapulohumeroperoneal muscle weakness, joint contractures, and cardiac defects that include arrhythmias and dilated cardiomyopathy. Although there is a defining group of clinical findings, the proteins responsible and their underlying gene defects leading to EDMD are varied. A common aspect of the gene defects is their involvement in, or wit...
Source: Application of Clinical Genetics - February 24, 2016 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
