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Primary Research
Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identif...
Human Genomics 2017 11:19
Published on: 15 August 2017
Primary Research
Autosomal recessive forms of retinitis punctata albescens (RPA) have been described. RPA is characterized by progressive retinal degeneration due to alteration in visual cycle and consequent deposit of photopi...
Human Genomics 2017 11:18
Published on: 1 August 2017
Review
Long non-coding RNAs (lncRNAs) are a sub-class within non-coding RNA repertoire that have emerged as crucial regulators of the gene expression in various pathophysiological conditions. lncRNAs display remarkab...
Human Genomics 2017 11:17
Published on: 24 July 2017
Primary Research
The ciliopathies represent an umbrella group of >50 clinical entities that share both clinical features and molecular etiology underscored by structural and functional defects of the primary cilium. Despite th...
Human Genomics 2017 11:16
Published on: 19 July 2017
Primary Research
Human T cell leukemia virus type 1 (HTLV-1) causes adult T cell leukemia (ATL) in a proportion of infected individuals after a long latency period. Development of ATL is a multistep clonal process that can be ...
Human Genomics 2017 11:15
Published on: 11 July 2017
Primary Research
Breast cancer is the most common among women worldwide, and ovarian cancer is the most difficult gynecological tumor to diagnose and with the lowest chance of cure. Mutations in BRCA1 and BRCA2 genes increase the...
Human Genomics 2017 11:14
Published on: 26 June 2017
Review
Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in...
Human Genomics 2017 11:13
Published on: 21 June 2017
Review
Neurodegenerative diseases (NGDs) such as Alzheimer’s and Parkinson’s are debilitating and largely untreatable conditions strongly linked to age. The clinical, neuropathological, and genetic components of NGDs...
Human Genomics 2017 11:12
Published on: 25 May 2017
Primary research
The identification of disease-causing variants in autosomal dominant diseases using exome-sequencing data remains a difficult task in small pedigrees. We combined several strategies to improve filtering and pr...
Human Genomics 2017 11:11
Published on: 22 May 2017
Primary Research
Genetic variant effect prediction algorithms are used extensively in clinical genomics and research to determine the likely consequences of amino acid substitutions on protein function. It is vital that we bet...
Human Genomics 2017 11:10
Published on: 16 May 2017
Primary Research
Epidemiological studies of DNA methylation profiles may uncover the molecular mechanisms through which genetic and environmental factors contribute to the risk of multifactorial diseases. There are two types o...
Human Genomics 2017 11:8
Published on: 12 May 2017
Letter to the Editor
A reservoir of HIV-1 is a major obstacle in eliminating HIV-1 in patients because it can reactivate in stopping antiretroviral therapy (ART). Histone modifications, such as acetylation and methylation, play a ...
Human Genomics 2017 11:9
Published on: 12 May 2017
Primary Research
SPINK1 (serine protease inhibitor, kazal-type, 1), which encodes human pancreatic secretory trypsin inhibitor, is one of the most extensively studied genes underlying chronic pancreati...
Human Genomics 2017 11:7
Published on: 4 May 2017
Primary research
Polycythemia vera (PV), characterized by massive production of erythrocytes, is one of the myeloproliferative neoplasms. Most patients carry a somatic gain-of-function mutation in JAK2, c.1849G > T (p.Val617Phe),...
Human Genomics 2017 11:6
Published on: 20 April 2017
Primary research
A growing number of severe Mycoplasma pneumoniae pneumonia (MPP) cases have been reported recently. However, the pathogenesis of severe MPP is not clear. In the current study, transcriptome sequencing was used to...
Human Genomics 2017 11:4
Published on: 16 March 2017
Genome database
The Israeli National and Ethnic Mutation database (http://server.goldenhelix.org/israeli) was launched in September 2006 on the ETHNOS software to incl...
Human Genomics 2017 11:5
Published on: 16 March 2017
Primary research
Genetic predisposition to the clinical categories of coronary artery disease (anatomical viz., insignificant, single, double, and triple vessel diseases and phenotypic severity categories viz., angina, acute c...
Human Genomics 2017 11:3
Published on: 4 March 2017
Primary research
Salivary amylase in humans is encoded by the copy variable gene AMY1 in the amylase gene cluster on chromosome 1. Although the role of salivary amylase is well established, the consequences of the copy number var...
Human Genomics 2017 11:2
Published on: 20 February 2017
Primary research
Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of...
Human Genomics 2017 11:1
Published on: 16 February 2017
Letter to the Editor
Jayson GC et al. remarked in Lancet that nearly 100% of mucinous ovarian cancer cases have Kras mutation as well as a high frequency of Her2 amplification. Using the Abbott PathVysion Her2 DNA Probe Kit and Kras ...
Human Genomics 2016 10:40
Published on: 28 December 2016
Primary research
Head-and-neck squamous cell carcinoma (HNSCC) differs between smokers and nonsmokers in etiology and clinical presentation. Because of demonstrated unequivocal involvement in smoking-induced cancer in laborato...
Human Genomics 2016 10:39
Published on: 28 November 2016
Primary research
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a monogenic, hereditary, small vessel disease of the brain causing stroke and vascular dementia in adults...
Human Genomics 2016 10:38
Published on: 24 November 2016
Primary research
Autosomal dominant polycystic kidney disease (ADPKD) causes progressive loss of renal function in adults as a consequence of the accumulation of cysts. ADPKD is the most common genetic cause of end-stage renal...
Human Genomics 2016 10:37
Published on: 21 November 2016
Primary research
Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma aris...
Human Genomics 2016 10:36
Published on: 18 November 2016
Primary research
Our understanding of the transcriptional potential of the genome and its functional consequences has undergone a significant change in the last decade. This has been largely contributed by the improvements in ...
Human Genomics 2016 10:35
Published on: 28 October 2016
