Haplotype analysis of SERPINE1 gene: Risk for aneurysmal subarachnoid hemorrhage and clinical outcomes.

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:CYP1B1 variants and deletions are the most common cause of primary congenital glaucoma (PCG). METHODS:We investigated an individual with PCG from the Australian and New Zealand Registry of Advanced Glaucoma. We performed sequencing of the CYP1B1 gene, followed by Multiplex Ligation-dependent Probe Amplifica...

journal_title：Molecular genetics & genomic medicine

authors： Souzeau E,Dubowsky A,Ruddle JB,Craig JE

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Long noncoding RNAs (lncRNAs) are from the family of noncoding RNAs. Existing studies have shown that lncRNAs are involved in many biological processes and are strongly related to the occurrence and development of tumors. Recent studies have indicated that lncRNA GIHCG participates in the progression of many...

journal_title：Molecular genetics & genomic medicine

authors： Liu G,Jiang Z,Qiao M,Wang F

更新日期：2019-06-01 00:00:00

abstract：:Single mutations in the ATP-binding cassette transporter (ABCC6) gene (OMIM 603234) are known to cause the rare autosomal recessive disease pseudoxanthoma elasticum (PXE). Recently, we have found that copy number variations (CNVs) in pseudogenes of the ABCC6 gene are quite common. The aim of this study was to investig...

journal_title：Molecular genetics & genomic medicine

authors： Kringen MK,Stormo C,Berg JP,Terry SF,Vocke CM,Rizvi S,Hendig D,Piehler AP

更新日期：2015-05-01 00:00:00

abstract：BACKGROUND:Male-specifically inherited Y-STRs have been widely used in population genetics and forensic investigations. METHODS:We genotyped and analyzed Y chromosome haplotypes of 408 unrelated Tibeto-Burman-speaking Yi male individuals from Guizhou using Goldeneye® Y-PLUS kit. Population comparisons between the Guiz...

journal_title：Molecular genetics & genomic medicine

authors： Song Z,Wang Q,Zhang H,Tang J,Wang Q,Zhang H,Yang M,Ji J,Ren Z,Wu Y,Huang J

更新日期：2021-01-15 00:00:00

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:Susceptibility to Graves' disease (GD) is determined by various genetic factors; the gene encoding protein tyrosine phosphatase (PTPN22) may be one of those associated with higher risk of GD. The aim was to estimate the association of the PTPN22 gene polymorphism rs2476601:c.C>T (c.1858C>T) with the predispo...

journal_title：Molecular genetics & genomic medicine

authors： Wawrusiewicz-Kurylonek N,Koper-Lenkiewicz OM,Gościk J,Myśliwiec J,Pawłowski P,Krętowski AJ

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Recently hyperphenylalaninemia (HPA) caused by variants in DNAJC12 was reported and this suggested a new strategy for diagnosis. But DNAJC12-associated HPA is a rare in Chinese population so far. METHODS:The clinical information and blood samples from the patient and his family members were collected and an...

journal_title：Molecular genetics & genomic medicine

authors： Li M,Yang Q,Yi S,Qin Z,Luo J,Fan X

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane-associated protein, hypothetically involved in epidermal lipid processing and in lamellar body formation. The aim of this work is to investigate the causative mutation in ...

journal_title：Molecular genetics & genomic medicine

authors： Laadhar S,Ben Mansour R,Marrakchi S,Miled N,Ennouri M,Fischer J,Kaddechi MA,Turki H,Fakhfakh F

更新日期：2020-03-01 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

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:Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited disease which primarily manifested with developing adenomas or polyps in colon or rectum. It is caused by the germline mutations in adenomatous polyposis coli (APC) gene. Patients with FAP are usually manifested with "hundreds or even ...

journal_title：Molecular genetics & genomic medicine

authors： Wang D,Liang S,Zhang X,Dey SK,Li Y,Xu C,Yu Y,Li M,Zhao G,Zhang Z

更新日期：2019-01-01 00:00:00

abstract：BACKGROUND:The heritability of several psychiatric disorders is high, and specific at-risk variants have been identified. Therefore, genetic counseling and genetic testing can be prescribed to some psychiatric patients, but these services are not standardized for most of the population. The aims of the study were to ga...

journal_title：Molecular genetics & genomic medicine

authors： Martorell L,Sanfeliu A,Blázquez A,Lojo E,Cortés MJ,de Pablo J,Vilella E

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:HSD10 mitochondrial disease (HSD10MD), originally described as a deficiency of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD), is a rare X-linked disorder of a moonlighting protein encoded by the HSD17B10. The diagnosis is usually first suspected on finding elevated isoleucine degradation metabolites in ...

journal_title：Molecular genetics & genomic medicine

authors： Waters PJ,Lace B,Buhas D,Gravel S,Cyr D,Boucher RM,Bernard G,Lévesque S,Maranda B

更新日期：2019-12-01 00:00:00

abstract：BACKGROUND:Panel-based targeted exome sequencing was used to analyze the genetic and clinical findings of targeted genes in a cohort of northeast Chinese with retinitis pigmentosa. METHODS:A total of 87 subjects, comprising 23 probands and their family members (total patients: 32) with confirmed retinitis pigmentosa w...

journal_title：Molecular genetics & genomic medicine

authors： Sun Y,Li W,Li JK,Wang ZS,Bai JY,Xu L,Xing B,Yang W,Wang ZW,Wang LS,He W,Chen F

更新日期：2020-04-01 00:00:00

abstract：BACKGROUND:Age-related cataracts (ARC) is the most common blinding eye disease worldwide, and its incidence tend to become younger. However, the relationship between genetic factors and mechanisms is not fully understood. The aim of the study was to further clarify the relationship between ARC and genetic mechanisms in...

journal_title：Molecular genetics & genomic medicine

authors： Li JK,Li LL,Li W,Wang ZW,Gao FJ,Hu FY,Zhang SH,Qu SF,Huang J,Wang LS,Wu JH,Chen F

更新日期：2020-07-01 00:00:00

abstract：BACKGROUND:Kleefstra Syndrome (KS) (MIM# 610253) is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1, GLP). EHMT1 (MIM# 607001) encodes a histone methyltransferase that heterodimerizes with EHMT2 (also known as G9a, MIM# 604599), which together are responsibl...

journal_title：Molecular genetics & genomic medicine

authors： Blackburn PR,Williams M,Cousin MA,Boczek NJ,Beek GJ,Lomberk GA,Urrutia RA,Babovic-Vuksanovic D,Klee EW

更新日期：2017-01-26 00:00:00

abstract：BACKGROUND:Due to extensive clinical and genetic heterogeneity of intellectual disability (ID) syndromes, the process of diagnosis is very challenging even for expert clinicians. Despite recent advancements in molecular diagnostics methodologies, a significant fraction of ID patients remains without a clinical diagnosi...

journal_title：Molecular genetics & genomic medicine

authors： Jezela-Stanek A,Ciara E,Jurkiewicz D,Kucharczyk M,Jędrzejowska M,Chrzanowska KH,Krajewska-Walasek M,Żemojtel T

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional impairment of cilia throughout the body. The involvement of copy number variation (CNV) in the development of PCD is largely unknown. METHODS:We examined 93 Japanese patients with clinically suspected PCD from 84 unrelated fami...

journal_title：Molecular genetics & genomic medicine

authors： Takeuchi K,Xu Y,Kitano M,Chiyonobu K,Abo M,Ikegami K,Ogawa S,Ikejiri M,Kondo M,Gotoh S,Nagao M,Fujisawa T,Nakatani K

更新日期：2020-03-01 00:00:00

abstract：BACKGROUND:To explore survival, causes of death, and the prevalence of cardiovascular events in a Norwegian Marfan syndrome (MFS) cohort. MFS is a heritable connective tissue disorder associated with reduced life expectancy-primarily due to aortic pathology. METHODS:A follow-up study of 84 MFS adults, initially invest...

journal_title：Molecular genetics & genomic medicine

authors： Vanem TT,Geiran OR,Krohg-Sørensen K,Røe C,Paus B,Rand-Hendriksen S

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:Mutations in mitochondrial aminoacyl tRNA synthetases form a subgroup of mitochondrial disorders often only perturbing brain function by affecting mitochondrial translation. Here we report two siblings with mitochondrial disease, due to compound heterozygous mutations in the mitochondrial tryptophanyl-tRNA s...

journal_title：Molecular genetics & genomic medicine

authors： Maffezzini C,Laine I,Dallabona C,Clemente P,Calvo-Garrido J,Wibom R,Naess K,Barbaro M,Falk A,Donnini C,Freyer C,Wredenberg A,Wedell A

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:The dreadful prognosis of nonmuscle invasive bladder cancer mainly results from the delay in recognition of individuals with a high risk of progression. Thus, the emphasis of this work lies in developing valuable biomarkers that is conducive to accurately predicting the progression of NMIBC. METHODS:Microar...

journal_title：Molecular genetics & genomic medicine

authors： Shi J,Zhang P,Liu L,Min X,Xiao Y

更新日期：2019-11-01 00:00:00

abstract：BACKGROUND:β-Globin gene cluster haplotypes associated with the Hb D-Los Angeles mutation have been reported in many different locations in different populations including Italy, Iran, Thailand, Belgium, Mexico, Holland, and Turkey. In this study, we have identified genetic relationships and formation periods between t...

journal_title：Molecular genetics & genomic medicine

authors： Ozturk O,Arikan S,Atalay A,Atalay EO

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:The PROX1 gene is specifically expressed in a subpopulation of endothelial cells that, by budding and sprouting, give rise to the lymphatic system. It also plays a critical role in neurogenesis and during development of many organs, such as the eye lens, liver, and pancreas. METHODS:We used next-generation ...

journal_title：Molecular genetics & genomic medicine

authors： Ricci M,Amato B,Barati S,Compagna R,Veselenyiova D,Kenanoglu S,Stuppia L,Beccari T,Baglivo M,Kurti D,Krajcovic J,Serrani R,Dundar M,Basha SH,Chiurazzi P,Bertelli M

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:Spinal neurofibromatosis (SNF) is a related form of Neurofibromatosis type 1 (NF1) with a low incidence. Here, we report a SNF patient with NF1 (OMIM *613113) mutation in a classic NF1 family to enrich the case data. METHODS:We presented the clinical data of a 27-year-old female suffered from SNF. Two NF1 i...

journal_title：Molecular genetics & genomic medicine

authors： Ning Z,Yang Z,Chen G,Wu W,He L,Sun Y,Cai D,Zhang W

更新日期：2020-01-01 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:Lead (Pb) is broadly used in various industries and causes irreversible damage to human tissues, organs, and systems. Studies have revealed that lead exerts toxic effects via interfering with calcium channel. METHODS:In the present study, we investigated whether single nucleotide polymorphisms (SNPs) in TRP...

journal_title：Molecular genetics & genomic medicine

authors： Liu J,Zhang L,Feng L,Xu M,Gao Y,Zhou P,Yu Z,Zhu B,An Y,Zhang H

更新日期：2019-03-01 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：BACKGROUND:Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next-generation sequencing (NGS) technologies have proven to be highly effective and powerful tools for population genetic studies of HL. Here, we analyzed clinical and molec...

journal_title：Molecular genetics & genomic medicine

authors： Xiang YB,Xu CY,Xu YZ,Li HZ,Zhou LL,Xu XQ,Chen ZH,Tang SH

更新日期：2020-12-01 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