Understanding the molecular association between hyperkalemia and lung squamous cell carcinomas.

abstract：BACKGROUND:Emerging evidence has shown that miRNAs are involved in human carcinogenesis as tumor suppressors or oncogenes. Single nucleotide polymorphisms (SNPs) located in pre-miRNAs may affect the processing and therefore, influence the expression of mature miRNAs. Previous studies generated conflicting results when ...

journal_title：BMC medical genetics

authors： Linhares JJ,Azevedo M Jr,Siufi AA,de Carvalho CV,Wolgien Mdel C,Noronha EC,Bonetti TC,da Silva ID

更新日期：2012-12-10 00:00:00

abstract：BACKGROUND:Mitochondrial disorders are difficult to diagnose due to extreme genetic and phenotypic heterogeneities. METHODS:We explored the utility of targeted next-generation sequencing for the diagnosis of mitochondrial disorders in 148 patients submitted for clinical testing. A panel of 447 nuclear genes encoding m...

journal_title：BMC medical genetics

authors： DaRe JT,Vasta V,Penn J,Tran NT,Hahn SH

更新日期：2013-11-11 00:00:00

abstract：BACKGROUND:Preterm birth (PTB) is a complex disorder associated with significant neonatal mortality and morbidity and long-term adverse health consequences. Multiple lines of evidence suggest that genetic factors play an important role in its etiology. This study was designed to identify genetic variation associated wi...

journal_title：BMC medical genetics

authors： Kim J,Stirling KJ,Cooper ME,Ascoli M,Momany AM,McDonald EL,Ryckman KK,Rhea L,Schaa KL,Cosentino V,Gadow E,Saleme C,Shi M,Hallman M,Plunkett J,Teramo KA,Muglia LJ,Feenstra B,Geller F,Boyd HA,Melbye M,Marazita ML

更新日期：2013-07-26 00:00:00

abstract：BACKGROUND:RET is the major gene associated to Hirschsprung disease (HSCR) with differential contributions of its rare and common, coding and noncoding mutations to the multifactorial nature of this pathology. In the present study, we have performed a comprehensive study of our HSCR series evaluating the involvement of...

journal_title：BMC medical genetics

authors： Núñez-Torres R,Fernández RM,Acosta MJ,Enguix-Riego Mdel V,Marbá M,Carlos de Agustín J,Castaño L,Antiñolo G,Borrego S

更新日期：2011-10-13 00:00:00

abstract：BACKGROUND:Asthma genetics has been extensively studied and many genes have been associated with the development or severity of this disease. In contrast, the genetic basis of allergic rhinitis (AR) has not been evaluated as extensively. It is well known that asthma is closely related with AR since a large proportion o...

journal_title：BMC medical genetics

authors： Andiappan AK,Nilsson D,Halldén C,Yun WD,Säll T,Cardell LO,Tim CF

更新日期：2013-05-10 00:00:00

abstract：BACKGROUND:The lectin-like oxidized LDL receptor LOX-1 (encoded by OLR1) is believed to play a key role in atherogenesis and some reports suggest an association of OLR1 polymorphisms with myocardial infarction (MI). We tested whether single nucleotide polymorphisms (SNPs) in OLR1 are associated with clinically signific...

journal_title：BMC medical genetics

authors： Knowles JW,Assimes TL,Boerwinkle E,Fortmann SP,Go A,Grove ML,Hlatky M,Iribarren C,Li J,Myers R,Risch N,Sidney S,Southwick A,Volcik KA,Quertermous T

更新日期：2008-04-02 00:00:00

abstract：BACKGROUND:Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAMTSL4, FBN1, LTBP2, ADAMTSL-10...

journal_title：BMC medical genetics

authors： Alías L,Crespi J,González-Quereda L,Téllez J,Martínez E,Bernal S,Gallano MP

更新日期：2018-05-11 00:00:00

abstract：BACKGROUND:Sjogren-Larsson syndrome is a hereditary neurocutaneous syndrome that is non-progressive in nature. Although neuroregression has been reported in seizure-prone preschool children requiring anti-epileptic treatment, teenage-onset dystonia precipitating neurodegeneration without any immediate causal events has...

journal_title：BMC medical genetics

authors： Cho KH,Shim SH,Jung Y,Sung SR,Kim M

更新日期：2018-08-29 00:00:00

abstract：BACKGROUND:Tumor necrosis factor superfamily member 15 (TNFSF15) is closely related to tumorigenesis and development. This study aimed to investigate the correlations between TNFSF15 polymorphisms and genetic susceptibility to lung cancer. METHODS:This case-control study included 209 small cell lung cancer patients (S...

journal_title：BMC medical genetics

authors： Gao H,Niu Z,Zhang Z,Wu H,Xie Y,Yang Z,Li A,Jia Z,Zhang X

更新日期：2019-02-08 00:00:00

abstract：BACKGROUND:Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesity, joint hypermobility, friendly disposition and intermittent neutropenia. VPS13B (vacuolar protein ...

journal_title：BMC medical genetics

authors： Rejeb I,Jilani H,Elaribi Y,Hizem S,Hila L,Zillahrdt JL,Chelly J,Benjemaa L

更新日期：2017-11-17 00:00:00

abstract：BACKGROUND:The Krüppel-like factor (KLF) family consists of transcription factors that can activate or repress different genes implicated in processes such as differentiation, development, and cell cycle progression. Moreover, several of these proteins have been implicated in glucose homeostasis, making them candidate ...

journal_title：BMC medical genetics

authors： Gutiérrez-Aguilar R,Benmezroua Y,Vaillant E,Balkau B,Marre M,Charpentier G,Sladek R,Froguel P,Neve B

更新日期：2007-08-09 00:00:00

abstract：BACKGROUND:Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. CASE PRESENTATION:A Chinese family with two offspring-patients affected by developmental delay and intellectual...

journal_title：BMC medical genetics

authors： Zhao S,Luo Z,Xiao Z,Li L,Zhao R,Yang Y,Zhong Y

更新日期：2019-11-21 00:00:00

abstract：BACKGROUND:The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. METHODS:To detect further CNVs,...

journal_title：BMC medical genetics

authors： von Lowtzow C,Hofmann A,Zhang R,Marsch F,Ebert AK,Rösch W,Stein R,Boemers TM,Hirsch K,Marcelis C,Feitz WF,Brusco A,Migone N,Di Grazia M,Moebus S,Nöthen MM,Reutter H,Ludwig M,Draaken M

更新日期：2016-04-30 00:00:00

abstract：BACKGROUND:MicroRNAs (miRNAs) are important small non-coding RNA molecules that regulate gene expression in cellular processes related to the pathogenesis of cancer. Genetic variation in miRNA genes could impact their synthesis and cellular effects and single nucleotide polymorphisms (SNPs) are one example of genetic v...

journal_title：BMC medical genetics

authors： Chacon-Cortes D,Smith RA,Haupt LM,Lea RA,Youl PH,Griffiths LR

更新日期：2015-11-17 00:00:00

abstract：BACKGROUND:E-selectin is implicated in various inflammatory processes and related disorders. We aimed to investigate the role of SELE-gene genotypes/haplotypes on plasma levels of MMP9 and sE-selectin in Taiwanese individuals. METHODS:Five hundred twenty individuals were enrolled. Seven tagging SELE single nucleotide ...

journal_title：BMC medical genetics

authors： Wu S,Hsu LA,Teng MS,Lin JF,Chang HH,Sun YC,Chen HP,Ko YL

更新日期：2012-11-29 00:00:00

abstract：BACKGROUND:Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infertility. Clinical phenotypes ...

journal_title：BMC medical genetics

authors： Rocca MS,Piatti G,Michelucci A,Guazzo R,Bertini V,Vinanzi C,Caligo MA,Valetto A,Foresta C

更新日期：2020-11-10 00:00:00

abstract：BACKGROUND:We evaluated cytogenetic results occurring with first trimester pregnancy loss, and assessed the type and frequency of chromosomal abnormalities after assisted reproductive treatment (ART) and compared them with a control group. We also compared the rate of chromosomal abnormalities according to infertility ...

journal_title：BMC medical genetics

authors： Kim JW,Lee WS,Yoon TK,Seok HH,Cho JH,Kim YS,Lyu SW,Shim SH

更新日期：2010-11-03 00:00:00

abstract：BACKGROUND:Mutations in the FKBP10 gene were first described in patients with Osteogenesis imperfecta type III. Two follow up reports found FKBP10 mutations to be associated with Bruck syndrome type 1, a rare disorder characterized by congenital contractures and bone fragility. This raised the question if the patients ...

journal_title：BMC medical genetics

authors： Steinlein OK,Aichinger E,Trucks H,Sander T

更新日期：2011-11-22 00:00:00

abstract：BACKGROUND:Telomere length, an indicator of ageing and longevity, has been correlated with several biomarkers of cardiometabolic disease in both Arab children and adults. It is not known, however, whether or not telomere length is a highly conserved inheritable trait in this homogeneous cohort, where age-related diseas...

journal_title：BMC medical genetics

authors： Al-Attas OS,Al-Daghri NM,Alokail MS,Alkharfy KM,Alfadda AA,McTernan P,Gibson GC,Sabico SB,Chrousos GP

更新日期：2012-05-18 00:00:00

abstract：BACKGROUND:Haemophagocytic lymphohistiocytosis is a life-threatening disease resulting from primary or secondary hyper-inflammatory disorders. The typical symptoms include persistent fever, splenomegaly, cytopenia and significant elevation of serum ferritin. CASE PRESENTATION:We report a 30-year-old Chinese female pat...

journal_title：BMC medical genetics

authors： Sheng L,Zhang W,Gu J,Shen K,Luo H,Yang Y

更新日期：2019-02-19 00:00:00

abstract：BACKGROUND:Rubinstein-Taybi syndrome (RSTS; OMIM #180849, #613684) is a rare autosomal dominant genetic condition characterized by broad thumbs and halluces, facial dysmorphism, short stature and variable degree of intellectual disability. RSTS is associated with mutations in CREBBP and EP300 genes in 50-60% and 5-8% o...

journal_title：BMC medical genetics

authors： López M,Seidel V,Santibáñez P,Cervera-Acedo C,Castro-de Castro P,Domínguez-Garrido E

更新日期：2016-12-13 00:00:00

abstract：BACKGROUND:Published studies present conflicting data regarding the impact of Thrombospondin-1 (TSP-1) expression on prognosis of various cancers. We performed this meta-analysis to illustrate the preliminary predictive value of TSP-1. METHODS:Twenty-four studies with a total of 2379 patients were included. A comprehe...

journal_title：BMC medical genetics

authors： Sun S,Dong H,Yan T,Li J,Liu B,Shao P,Li J,Liang C

更新日期：2020-06-29 00:00:00

abstract：BACKGROUND:Family-based cardiac screening programmes for persons at risk for genetic cardiac diseases are now recommended. However, the psychological wellbeing and health related quality of life (QoL) of such screened patients is poorly understood, especially in younger patients. We sought to examine wellbeing and QoL ...

journal_title：BMC medical genetics

authors： McGorrian C,McShane C,McQuade C,Keelan T,Neill JO,Galvin J,Malone K,Mahon NG,Codd M

更新日期：2013-01-08 00:00:00

abstract：BACKGROUND:Probably the best example of the rise and maintenance of balancing selection as an evolutionary trend is the role of S-haemoglobin (HbS - rs334) in protecting from malaria. Yet, the dynamics of such a process remains poorly understood, particularly in relation to different malaria transmission rates and the ...

journal_title：BMC medical genetics

authors： Salih NA,Hussain AA,Almugtaba IA,Elzein AM,Elhassan IM,Khalil EA,Ishag HB,Mohammed HS,Kwiatkowski D,Ibrahim ME

更新日期：2010-02-03 00:00:00

abstract：BACKGROUND:Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reasons a large number of Iraqi patients present to Lebanon for medical care. This is the first repor...

journal_title：BMC medical genetics

authors： Farra C,Dagher C,Hamadeh L,El Saghir N,Mukherji D

更新日期：2019-09-05 00:00:00

abstract：BACKGROUND:The platelet P2Y12 receptor plays a key role in platelet activation. The H2 haplotype of the P2Y12 receptor gene (P2RY12) has been found to be associated with maximal aggregation response to adenosine diphosphate (ADP) and with increased risk for peripheral arterial disease. No data are available on its asso...

journal_title：BMC medical genetics

authors： Cavallari U,Trabetti E,Malerba G,Biscuola M,Girelli D,Olivieri O,Martinelli N,Angiolillo DJ,Corrocher R,Pignatti PF

更新日期：2007-09-05 00:00:00

abstract：:The Framingham Heart Study, founded in 1948 to examine the epidemiology of cardiovascular disease in a small town outside of Boston, has become the worldwide standard for cardiovascular epidemiology. It is among the longest running, most comprehensively characterized multi-generational studies in the world. Such semin...

journal_title：BMC medical genetics

authors： Jaquish CE

更新日期：2007-10-04 00:00:00

abstract：BACKGROUND:Congenital NBCe1A deficiency with the SLC4A4 mutation causes severe proximal renal tubular acidosis, which often comprises extrarenal symptoms, such as intellectual disability and developmental delay, glaucoma, cataract and band keratopathy. To date, almost all mutations have been found to be homozygous muta...

journal_title：BMC medical genetics

authors： Horita S,Simsek E,Simsek T,Yildirim N,Ishiura H,Nakamura M,Satoh N,Suzuki A,Tsukada H,Mizuno T,Seki G,Tsuji S,Nangaku M

更新日期：2018-06-18 00:00:00

abstract：BACKGROUND:The mitochondrial voltage-dependent anion channel (VDAC) is increasingly implicated in the control of apoptosis. We have studied the effects the mitochondrial DNA (mtDNA) tRNAIle mutation on VDAC expression, localization, and apoptosis. METHODS:Lymphoblastoid cell lines were derived from 3 symptomatic and 1...

journal_title：BMC medical genetics

authors： Yuqi L,Lei G,Yang L,Zongbin L,Hua X,Lin W,Rui C,Mohan L,Yi W,Minxin G,Shiwen W

更新日期：2009-11-09 00:00:00

abstract：BACKGROUND:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is increasingly recognized as an inherited arterial disease leading to a step-wise decline and eventually to dementia. CADASIL is caused by mutations in NOTCH3 epidermal growth factor-like repeat that maps to...

journal_title：BMC medical genetics

authors： Bohlega S,Al Shubili A,Edris A,Alreshaid A,Alkhairallah T,AlSous MW,Farah S,Abu-Amero KK

更新日期：2007-11-09 00:00:00