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Current study results from the report, 'Genetic association of htSNPs across the major histocompatibility complex with rheumatoid arthritis in an African-American population,' have been published. According to recent research from [...]

According to a study from South Africa, 'IS6110 is a transposable element found in Mycobacterium tuberculosis complex members.' 'Regions of preferential IS6110 integration occur within the M. tuberculosis genome but [...]

'Hereditary motor-sensory neuropathy (HMSN) Type 1/CMT 1 is a disorder of the peripheral nervous System,' scientists in Bochum, Germany report (see also Neuropathy). 'The underlying genetic cause is heterogeneous, and [...]

'Mutations in the gene coding for AIPL1 cause Leber congenital amaurosis (LCA), a severe form of childhood blindness. The severity in disease is reflected in the complete loss of vision [...]

'At least 119 mutations in the gene encoding copper/zinc superoxide dismutase (SOD1) cause amyotrophic lateral sclerosis by an unidentified toxic gain of function. We compared the dynamic properties of 13 [...]

'Mutations in superoxide dismutase-1 (SOD1) cause familial amyotrophic lateral sclerosis (fALS). Recent evidence implicates adaptive responses to endoplasmic reticulum (ER) stress in the disease process via a pathway known as [...]

'Recently, a novel type of secretory pathway, type VII secretion systems (T7SSs), has been characterized in mycobacteria. The chromosomes of Mycobacterium tuberculosis and Mycobacterium bovis encode five T7SSs (ESX-1 to [...]

According to a study from the United States, 'Tandem lesions are comprised of two contiguously damaged nucleotides. Tandem lesions make up the major family of reaction products generated from a [...]

"Osteoporosis is a bone disease leading to an increased fracture risk. It is considered a complex multifactorial genetic disorder with interaction of environmental and genetic factors," investigators in Netherlands report [...]

"The papillomavirus (PV) E2 protein is an important regulator of the viral life cycle. It has diverse roles in viral transcription, DNA replication, and genome maintenance," investigators in the United [...]

A report, 'Connexin expression pattern in the endometrium of baboons is influenced by hormonal changes and the presence of endometriotic lesions,' is newly published data in Molecular Human Reproduction. "Experimentally [...]

"Loss-of-function mutation of the Kit gene causes a severe defect in spermatogenesis that results in infertility due to the inability of its cognate ligand, KIT ligand (KITL), to stimulate spermatogonial [...]

According to a study from Helsinki, Finland, "Maspin is a serine protease inhibitor with tumor suppressor activity. Maspin can suppress tumor growth and metastasis in vivo and turner cell motility [...]

According to a study from Sassari, Italy, "The aim of this study was to determine the prevalence of known gene polymorphisms associated with osteoporosis in postmenopausal normal women from Burkina [...]

'Charcot-Marie-Tooth neuropathy (CMT) is an extremely common but heterogeneous inherited neuropathy. It has been classified into two forms: demyelinating and axonal,' scientists in Yamagata, Japan report (see also Neuropathy). 'The [...]

'The OCT4 gene, a POU homeodomain transcription factor, has been shown to be expressed in embryonic stein cells (ESC) as well as hUCB-MSCs. In this study, the roles played by [...]

'In the enterobacterial species Escherichia coli and Salmonella enterica, expression of horizontally acquired genes with a higher than average AT content is repressed by the nucleoid-associated protein H-NS. A classical [...]

Investigators publish new data in the report 'PDE8A genetic variation, polycystic ovary syndrome and androgen levels in women.' According to a study from the United States, "Polycystic ovary syndrome (PCOS) [...]

New research, 'Promoter and intron 1 polymorphisms of COL1A1 interact to regulate transcription and susceptibility to osteoporosis,' is the subject of a report. According to a study from Edinburgh, the [...]

According to a study from Shanghai, People's Republic of China, 'Familial progressive hyperpigmentation (FPH) is an autosomal-dominantly inherited disorder characterized by hyperpigmented patches in the skin, present in early infancy [...]

"Alzheimer's disease (AD) and vascular dementia (VaD) are the main causes of dementia. Postmenopausal estrogen deficiency was suggested as a contributor to cognitive decline; however, replacement therapy failed to prove [...]

According to a study from the United States, "Testosterone acting through the androgen receptor (AR) maintains the arrest of spermatogonial differentiation in juvenile spermatogonial depletion (jsd mutation in the Utp14b [...]

A report, 'General gene movement off the X chromosome in the Drosophila genus,' is newly published data in Genome Research. According to a study from the United States, "In Drosophila [...]

According to a study from Netherlands, 'The PLETHORA (PLT) stem cell transcription factors form a developmentally instructive protein gradient in Arabidopsis thaliana roots. Histone acetylation is known to facilitate gene [...]

According to a study from Leeds, the United Kingdom, ' To report phenotypic progression for a novel mutation in the RPGR gene causing X-linked retinitis pigmentosa (RP), and describe the [...]

'Mutation in leucine-rich repeat kinase-2 (LRRK2) is the most common cause of late-onset Parkinson's disease (PD). Although most cases of PD are sporadic, some are inherited, including those caused by [...]

Investigators publish new data in the report 'Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations.' According to a study from Leiden, [...]

According to a study from Kanagawa, Japan, 'We sequenced and analyzed the genome of a commensal Escherichia coli (E. coli) strain SE11 (O152:H28) recently isolated from feces of a healthy [...]

"TAAAA(n) polymorphism in sex hormone-binding globulin (SHBG) gene has been found to influence the transcriptional activity of SHBG gene in vitro, and several studies have reported variable associations of this [...]

According to a study from Santander, Spain, "Estrogen activity plays a critical role in bone homeostasis. The serum levels of sex hormone binding globulin (SHBG) influence free estrogen levels and [...]

Investigators publish new data in the report 'Genetic association of the activin A receptor gene (ACVR2A) and pre-eclampsia.' "Pre-eclampsia is a common serious disorder of human pregnancy, which is associated [...]

According to a study from the United States, "In this paper we describe the characterization of the genomes of two sea turtle papillomaviruses, Chelonia mydas PV (CmPV-1) and Caretta caretta [...]

'The P1 promoter of the Escherichia coli rpoH gene has been known as a sigma(70)-dependent promoter (RNAP). We show here that it is also recognized by sigma(S),' scientists in Gdansk, [...]

'Laminin 5 is a heterotrimeric basement membrane protein integral to the structure and function of the dermal-epidermal junction. It consists of three glycoprotein subunits: the alpha 3, beta 3 and [...]

New research, 'Characterization of the LacI-type transcriptional repressor RbsR controlling ribose transport in Corynebacterium glutamicum ATCC 13032,' is the subject of a report. 'The gene products of the rbsRACBD (rbs) [...]

'Kallmann syndrome (KS) is the combination of hypogonadotropic hypogonadism and anosmia or hyposmia, two features that are also frequently present in CHARGE syndrome. CHARGE syndrome is caused by mutations in [...]

A new study, 'Genetic basis of evolutionary adaptation by Escherichia coli to stressful cycles of freezing, thawing and growth,' is now available. According to a study from the United States, [...]

A new study, 'Variation in the human lectin-like oxidized low-density lipoprotein receptor 1 (LOX-1) gene is associated with plasma soluble LOX-1 levels,' is now available. According to a study from [...]

'Mobius syndrome typically presents as a sporadic trait with congenital facial palsy and abduction impairment. We used high-resolution magnetic resonance imaging (MRI) and genetic analysis to examine a family with [...]

Scientists discuss in 'Molecular aspects of rheumatoid arthritis: role of environmental factors' new findings in arthritis. "Rheumatoid arthritis (RA) is a systemic, chronic inflammatory disease that affects 0.5-1% of the [...]

According to a study from the United States, 'We measured the relative fitness among a set of experimentally evolved Escherichia coli strains differing by a small number of adaptive mutations [...]

A new study, 'Modulation of Escherichia coli sister chromosome cohesion by topoisomerase IV,' is now available. According to a study from Oxford, the United Kingdom, 'A body of evidence supports [...]

According to a study from the United Kingdom, 'Mitochondrial DNA (mtDNA) mutations are a major cause of genetic disease, but their prevalence in the general population is not known. We [...]

According to a study from Hong Kong, People's Republic of China, "Osteoporosis is a complex disease with a strong genetic component. To date, more than 20 genome-wide linkage scans across [...]

"Preeclampsia is a major cause of maternal and perinatal mortality and morbidity. The etiology of preeclampsia remains unclear," investigators in Seoul, South Korea report (see also Obstetrics). "Recently, it was [...]

Data detailed in 'Transcriptional changes in trichothiodystrophy cells' have been presented. According to a study from Falmer, the United Kingdom, 'Mutations in three of the genes encoding the XPB, XPD [...]

According to a study from Netherlands, 'Familial hemiplegic migraine (FHM) and alternating hemiplegia of childhood (AHC) are severe neurological disorders that share clinical features. Therefore, FHM genes are candidates for [...]

Current study results from the report, 'Accentuated osteoclastic response to parathyroid hormone undermines bone mass acquisition in osteonectin-null mice,' have been published. According to a study from Sao Paulo, Brazil, [...]

According to a study from the United States, "This study examined the frequency of personality, language, and social-behavioral characteristics believed to comprise the broad autism phenotype (BAP), across families differing [...]

According to a study from Santander, Spain, "Two polymorphisms of the aromatase and estrogen receptor genes appeared to interact to influence the risk of hip fractures in women. Allelic variants [...]