Association between polymorphisms in CXCR2 gene and preeclampsia.

abstract：BACKGROUND:Historically, groups that are most susceptible to health and healthcare disparities have been underrepresented in medical research. It is imperative to explore approaches that can facilitate the recruitment of underrepresented individuals into research studies. METHODS:Two approaches, hospital and community...

journal_title：Molecular genetics & genomic medicine

authors： Bishop MR,Shah A,Shively M,Huskey ALW,Omeler SM,Bilgili EP,Jackson E,Daniell K,Stallworth E,Spina S,Shepp K,Bergstresser S,Davis A,Dean H,Gibson J,Johnson B,Merner ND

更新日期：2018-09-01 00:00:00

abstract：BACKGROUND:Hereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (AD) progressive myopat...

journal_title：Molecular genetics & genomic medicine

authors： Telese R,Pagliarani S,Lerario A,Ciscato P,Fagiolari G,Cassandrini D,Grimoldi N,Conte G,Cinnante C,Santorelli FM,Comi GP,Sciacco M,Peverelli L

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Retinoblastoma (Rb) is a rare intraocular malignant tumor in children with high overall survival. Predisposition to Rb is linked to RB1 germline mutations with high penetrance, but rare RB1 low-penetrance variants are also known. Rb survivors are at risk of second primary malignancies (SPMs), mostly osteosar...

journal_title：Molecular genetics & genomic medicine

authors： Imbert-Bouteille M,Gauthier-Villars M,Leroux D,Meunier I,Aerts I,Lumbroso-Le Rouic L,Lejeune S,Delnatte C,Abadie C,Pujol P,Houdayer C,Corsini C

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:It has been proposed that lncRNAs, widely transcribed from genomes, play pivotal regulatory roles in a variety of biological processes, but their function in regulating spermatogenesis in human males is rarely reported. METHODS:QRT-PCR was adopted to detect HOTTIP expression level in testicular tissues from...

journal_title：Molecular genetics & genomic medicine

authors： Su Y,Zhou LL,Zhang YQ,Ni LY

更新日期：2019-09-01 00:00:00

abstract：BACKGROUND:Karyotype determination has a central role in the genetic workup of pregnancy loss, as aneuploidy (trisomy and monosomy) and polyploidy (triploidy and tetraploidy) are the cause in at least 50% of first trimester, 25% of second trimester, and 11% of third trimester miscarriages. There are several limitations...

journal_title：Molecular genetics & genomic medicine

authors： Babu R,Van Dyke DL,Bhattacharya S,Dev VG,Liu M,Kwon M,Gu G,Koduru P,Rao N,Williamson C,Fuentes E,Fuentes S,Papa S,Kopuri S,Lal V

更新日期：2018-05-01 00:00:00

abstract：OBJECTIVES:This study aimed to investigate and confirm the association between 15 single nucleotide polymorphisms of four susceptibility genes (NBS1, TP53, PTEN, and BRIP1) and the susceptibility of breast cancer. METHODS:The genome DNA was extracted from peripheral blood and tumor tissues from one hundred and sevente...

journal_title：Molecular genetics & genomic medicine

authors： Li X,Li Z,Yang M,Luo Y,Hu L,Xiao Z,Huang A,Huang J

更新日期：2021-01-05 00:00:00

abstract：BACKGROUND:Copy number variants in coding and noncoding genomic regions have been implicated as risk factor for schizophrenia (SCZ). Rare duplications of the RB1CC1 gene were found enriched in SCZ patients. Considering that the effect of such duplications on RB1CC1 expression has never been evaluated and partial gene d...

journal_title：Molecular genetics & genomic medicine

authors： Errichiello E,Giorda R,Gambale A,Iolascon A,Zuffardi O,Giglio S

更新日期：2020-12-19 00:00:00

abstract：BACKGROUND:Bicuspid aortic valve (BAV) is the most common congenital heart defect with a prevalence of 1%-2% in the general population. NOTCH1, SMAD6, and GATA5 are associated with BAV in humans, but few cases have been reported that did not involve NOTCH1. Here, we identified novel in-frame variants in SMAD6 (c.1168_1...

journal_title：Molecular genetics & genomic medicine

authors： Park JE,Park JS,Jang SY,Park SH,Kim JW,Ki CS,Kim DK

更新日期：2019-05-01 00:00:00

abstract：PURPOSE:Histone deacetylase inhibitor (HDACI) is a novel therapeutic option for cancer. However, the effects of HDACIs on chronic myeloid leukemia (CML) and the underlying mechanisms are still unknown. The aim of this study was to investigate the effect and the mechanism-of-action of two HDACI members, sodium butyrate ...

journal_title：Molecular genetics & genomic medicine

authors： Jia X,Zheng Y,Guo Y,Chen K

更新日期：2019-05-01 00:00:00

abstract：:Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucidated. Whereas class...

journal_title：Molecular genetics & genomic medicine

authors： Coelho AI,Trabuco M,Ramos R,Silva MJ,Tavares de Almeida I,Leandro P,Rivera I,Vicente JB

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Submicroscopic chromosomal imbalance is associated with an increased nuchal translucency (NT). Most previous research has recommended the use of chromosomal microarray analysis (CMA) for prenatal diagnosis if the NT ≥ 3.5 mm. However, there is no current global consensus on the cutoff value for CMA. In this ...

journal_title：Molecular genetics & genomic medicine

authors： Su L,Huang H,An G,Cai M,Wu X,Li Y,Xie X,Lin Y,Wang M,Xu L

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:The birth year-dependent onset of breast cancer (BC) in BRCA1/2 mutation carriers suggests a risk-modifying role for reproductive and life style factors. We therefore examined possible associations between these factors and age at diagnosis. METHODS:Cox regression analysis and log-Rank testing were used to ...

journal_title：Molecular genetics & genomic medicine

authors： Rieder V,Salama M,Glöckner L,Muhr D,Berger A,Tea MK,Pfeiler G,Rappaport-Fuerhauser C,Gschwantler-Kaulich D,Weingartshofer S,Singer CF

更新日期：2015-12-10 00:00:00

abstract：BACKGROUND:Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. METHODS:Routine cytogenomic analyses and literature ...

journal_title：Molecular genetics & genomic medicine

authors： Chai H,Grommisch B,DiAdamo A,Wen J,Hui P,Li P

更新日期：2019-10-01 00:00:00

abstract：:In this letter, we want to add information to the paper "Genetics and genomic medicine in Argentina" that we considered it was lacking. Argentina is a big country with inequalities in the access to public health care, especially in medical genetics and genomics. ...

journal_title：Molecular genetics & genomic medicine

authors： Cotignola J,Rozental S,Buzzalino N,Dain L

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:Wieacker-Wolff syndrome (WWS) is a congenital X-linked neuromuscular disorder, which was firstly reported in 1985. Zinc finger C4H2-type containing (ZC4H2) gene has been found to be associated with the disease pathogenesis. However, the underlying mechanism remains elusive. METHODS:Whole-exome sequencing wa...

journal_title：Molecular genetics & genomic medicine

authors： Wang D,Hu D,Guo Z,Hu R,Wang Q,Liu Y,Liu M,Meng Z,Yang H,Zhang Y,Cai F,Zhou W,Song W

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:This study investigated the effects of haplotypes T-G and C-A derived from NG_012836.1:g.4160T>C and NG_012836.1:g.4326G>A on protein expression levels in vitro and identified the functional sequence in the regulatory region of the GABRB3 gene linked to possible associations with schizophrenia. METHODS:Reco...

journal_title：Molecular genetics & genomic medicine

authors： Liu Y,Ding M,Liu YP,Zhang XC,Xing JX,Xuan JF,Xia X,Yao J,Wang BJ

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers. METHODS:We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves. R...

journal_title：Molecular genetics & genomic medicine

authors： Vande Perre P,Toledano D,Corsini C,Escriba E,Laporte M,Bertet H,Yauy K,Toledano A,Galibert V,Baudry K,Clotet L,Million E,Picot MC,Geneviève D,Pujol P

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:HNF1A gene regulates liver-specific genes, and genes that have a role in glucose metabolism, transport, and secretion of insulin. HNF1A gene mutations are frequently associated with type 2 diabetes. HNF1A protein has three domains: the dimerization domain, the DNA-binding domain, and the trans-activation dom...

journal_title：Molecular genetics & genomic medicine

authors： Magaña-Cerino JM,Luna-Arias JP,Labra-Barrios ML,Avendaño-Borromeo B,Boldo-León XM,Martínez-López MC

更新日期：2016-11-30 00:00:00

abstract：BACKGROUND:Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly-Xaa-Yaa amino acid sequence repeat region of the molecule, mRNA m...

journal_title：Molecular genetics & genomic medicine

authors： Nixon T,Richards AJ,Lomas A,Abbs S,Vasudevan P,McNinch A,Alexander P,Snead MP

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable model disease to study the hominin-specific volumetric expansion...

journal_title：Molecular genetics & genomic medicine

authors： Rasool S,Baig JM,Moawia A,Ahmad I,Iqbal M,Waseem SS,Asif M,Abdullah U,Makhdoom EUH,Kaygusuz E,Zakaria M,Ramzan S,Haque SU,Mir A,Anjum I,Fiaz M,Ali Z,Tariq M,Saba N,Hussain W,Budde B,Irshad S,Noegel AA,Höning

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Pituitary adenomas (PAs) are one of the most common intracranial tumors; approximately half of PAs are prolactin (PRL)-secreting PAs (prolactinomas). The genetic alterations prevalent in prolactinomas are unknown. METHODS:Here, we present a patient with an extremely aggressive and giant prolactinoma accompa...

journal_title：Molecular genetics & genomic medicine

authors： Miao Y,Li C,Guo J,Wang H,Gong L,Xie W,Zhang Y

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:Alcohol-induced osteonecrosis of femoral head (ONFH) is a complex disease and genetic factors are one of the causes. The purpose of this study is to investigate the effects of RETN (resistin; OMIM: 605565) and LDLR (low density lipoprotein receptor; OMIM: 606945) polymorphisms on the risk of alcohol-induced ...

journal_title：Molecular genetics & genomic medicine

authors： Liu C,An F,Cao Y,Wang J,Tian Y,Wu H,Wang J

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:A family with skeletal and craniofacial anomalies is presented. Whole-exome sequencing (WES) analysis indicated a diagnosis of Larsen syndrome, although their clinical presentation does not include the hallmark joint dislocations typically observed in Larsen syndrome. METHODS:Patient consent for the sharing...

journal_title：Molecular genetics & genomic medicine

authors： Kodra N,Diamonstein C,Hauser NS

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Congenital adrenal hyperplasia (CAH) (OMIM #201910) is a complex disease most often caused by pathogenic variant of the CYP21A2 gene. We have designed an efficient multistep approach to diagnose and classify CAH cases due to CYP21A2 variant and to study the genotype-phenotype relationship. METHODS:A large c...

journal_title：Molecular genetics & genomic medicine

authors： Chi DV,Tran TH,Nguyen DH,Luong LH,Le PT,Ta MH,Ngo HTT,Nguyen MP,Le-Anh TP,Nguyen DP,Bui TH,Ta VT,Tran VK

更新日期：2019-05-01 00:00:00

abstract：BACKGROUND:Due to the limited availability of mRNA analysis data, the number of exonic variants resulting in splicing impairment is underestimated although aberrant splicing correction is a promising therapeutic option to treat monogenic diseases, including choroideremia (CHM), a rare X-linked eye disorder arising from...

journal_title：Molecular genetics & genomic medicine

authors： Fioretti T,Ungari S,Savarese M,Cattaneo F,Pirozzi E,Esposito G

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:Studies evaluating next-generation sequencing (NGS) for retinal disorders may not reflect clinical practice. We report results of retrospective analysis of patients referred for clinical testing at two institutions (US and India). METHODS:This retrospective study of 131 patients who underwent clinically val...

journal_title：Molecular genetics & genomic medicine

authors： Yohe S,Sivasankar M,Ghosh A,Ghosh A,Holle J,Murugan S,Gupta R,Schimmenti LA,Vedam R,Thyagarajan B

更新日期：2020-02-01 00:00:00

abstract：BACKGROUND:Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has been reported. This study evaluated the phenotypes and genotypes of mainland Chinese patients with sialidosis type 1. METHODS:It was a retrospective case series...

journal_title：Molecular genetics & genomic medicine

authors： Han X,Wu S,Wang M,Li H,Huang Y,Sui R

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Ankylosing spondylitis (AS) is the second most common cause of inflammatory arthritis worldwide affecting the axial skeleton. Single nucleotide polymorphisms (SNPs) of matrix metalloproteinase-3 (MMP3) in the development of AS has few been investigated in Chinese population. METHODS:A total of 362 patients ...

journal_title：Molecular genetics & genomic medicine

authors： Zhu Y,Li S,Huang Z,Xing W,Li F,Da Y,Xue J,Li M,Sun K,Jia H,Yang X

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:To identify potential causative mutations in SLC2A9 and SLC22A12 that lead to hypouricemia or hyperuricemia (HUA). METHODS:Targeted resequencing of whole exon regions of SLC2A9 and SLC22A12 was performed in three cohorts of 31 hypouricemia, 288 HUA and 280 normal controls. RESULTS:A total of 84 high-qualit...

journal_title：Molecular genetics & genomic medicine

authors： Zhou Z,Wang K,Zhou J,Wang C,Li X,Cui L,Han L,Liu Z,Ren W,Wang X,Zhang K,Li Z,Pan D,Li C,Shi Y

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:To search for new prevention markers for early detection of the diseases caused by tobacco, we aimed to investigate the polymorphisms in TSLP and TSLPRs associated with cigarette smoking in the Saudi population. MATERIALS AND METHODS:Samples were collected from 177 smokers and 126 healthy controls. Three TS...

journal_title：Molecular genetics & genomic medicine

authors： Semlali A,Almutairi M,Azzi A,Reddy Parine N,AlAmri A,Alsulami S,Meshal Alumri T,Saud Alanazi M,Rouabhia M

更新日期：2019-08-01 00:00:00