MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene.

abstract：BACKGROUND:Urolithiasis is a worldwide urological problem with significant contribution of genetic factors. Pakistan, which resides within the Afro-Asian stone belt, has a high reported prevalence (12%) of urolithiasis. Osteopontin (SPP1) is a urinary macromolecule with a suggested critical role in modulating renal sto...

journal_title：BMC medical genetics

authors： Amar A,Afzal A,Hameed A,Ahmad M,Khan AR,Najma H,Abid A,Khaliq S

更新日期：2020-08-25 00:00:00

abstract：BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perraul...

journal_title：BMC medical genetics

authors： Kume K,Morino H,Miyamoto R,Matsuda Y,Ohsawa R,Kanaya Y,Tada Y,Kurashige T,Kawakami H

更新日期：2020-03-31 00:00:00

abstract：BACKGROUND:PE (preeclampsia) is a heterogeneous disorder with early onset PE (EOPE) and late onset PE (LOPE) subtypes. Associations between maternal miRNAs biosynthesis genes polymorphisms and risk of PE have been previously observed. However, the impact of polymorphisms in DGCR8 which is indispensable in miRNA maturin...

journal_title：BMC medical genetics

authors： Huang X,Li Z,Lei J,Wang D,Zhang Y

更新日期：2019-09-04 00:00:00

abstract：BACKGROUND:In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial and sporadic Parkinson's disease (PD). Early detection of G2019S by fast genetic testing is very important to guide PD's diagnosis and support patients...

journal_title：BMC medical genetics

authors： Landoulsi Z,Benromdhan S,Ben Djebara M,Damak M,Dallali H,Kefi R,Abdelhak S,Gargouri-Berrechid A,Mhiri C,Gouider R

更新日期：2017-07-06 00:00:00

abstract：BACKGROUND:Polymorphisms in and around the CTLA-4 gene have previously been associated to T1D and AITD in several populations. One such single nucleotide polymorphism (SNP), CT60, has been reported to affect the expression level ratio of the soluble (sCTLA-4) to full length CTLA-4 (flCTLA-4) isoforms. The aims of our s...

journal_title：BMC medical genetics

authors： Mayans S,Lackovic K,Nyholm C,Lindgren P,Ruikka K,Eliasson M,Cilio CM,Holmberg D

更新日期：2007-02-06 00:00:00

abstract：BACKGROUND:Epigenetics could facilitate greater understanding of disparities in the emergence of childhood obesity. While blood is a common tissue used in human epigenetic studies, saliva is a promising tissue. Our prior findings in non-obese preschool-aged Hispanic children identified 17 CpG dinucleotides for which di...

journal_title：BMC medical genetics

authors： Rushing A,Sommer EC,Zhao S,Po'e EK,Barkin SL

更新日期：2020-02-14 00:00:00

abstract：BACKGROUND:L. braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. Wound healing neutrophil (PMN) and macrophage responses made following the bite of the vector sand fly contribute to disease progression in mice. To look at the interplay between PMN and macrophages in disease progression in humans we aske...

journal_title：BMC medical genetics

authors： Castellucci L,Jamieson SE,Miller EN,Menezes E,Oliveira J,Magalhães A,Guimarães LH,Lessa M,de Jesus AR,Carvalho EM,Blackwell JM

更新日期：2010-01-20 00:00:00

abstract：BACKGROUND:FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical value of testing for mutations in RECQL and FANCM remains to be determined. In this study, we ha...

journal_title：BMC medical genetics

authors： Nguyen-Dumont T,Myszka A,Karpinski P,Sasiadek MM,Akopyan H,Hammet F,Tsimiklis H,Park DJ,Pope BJ,Slezak R,Kitsera N,Siekierzynska A,Southey MC

更新日期：2018-01-19 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:The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases. The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk. However, studies have largely been ambiguous. METHODS:Met...

journal_title：BMC medical genetics

authors： Hussain T,Naushad SM,Ahmed A,Alamery S,Mohammed AA,Abdelkader MO,Alkhrm NAN

更新日期：2019-12-10 00:00:00

abstract：BACKGROUND:The possibilities in the molecular genetics of long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM) has made family screening, with diagnostic and predictive genetic testing part of the health care offer in genetic counselling of inherited arrhythmias, potentially affecting the subjective health amo...

journal_title：BMC medical genetics

authors： Hamang A,Eide GE,Nordin K,Rokne B,Bjorvatn C,Øyen N

更新日期：2010-02-17 00:00:00

abstract：BACKGROUND:Obesity is related to multiple cardiovascular disease (CVD) risk factors as well as CVD and has a strong familial component. We tested for association between SNPs on the Affymetrix 100K SNP GeneChip and measures of adiposity in the Framingham Heart Study. METHODS:A total of 1341 Framingham Heart Study part...

journal_title：BMC medical genetics

authors： Fox CS,Heard-Costa N,Cupples LA,Dupuis J,Vasan RS,Atwood LD

更新日期：2007-09-19 00:00:00

abstract：BACKGROUND:Long QT syndrome (LQTS) is an autosomal dominant condition predisposing to sudden death from malignant arrhythmia. Genetic testing identifies many missense single nucleotide variants of uncertain pathogenicity. Establishing genetic pathogenicity is an essential prerequisite to family cascade screening. Many ...

journal_title：BMC medical genetics

authors： Leong IU,Stuckey A,Lai D,Skinner JR,Love DR

更新日期：2015-05-13 00:00:00

abstract：BACKGROUND:The phenotypic heterogeneity of sickle cell disease is likely the result of multiple genetic factors and their interaction with the sickle mutation. High transcranial doppler (TCD) velocities define a subgroup of children with sickle cell disease who are at increased risk for developing ischemic stroke. The ...

journal_title：BMC medical genetics

authors： Adams GT,Snieder H,McKie VC,Clair B,Brambilla D,Adams RJ,Kutlar F,Kutlar A

更新日期：2003-07-18 00:00:00

abstract：BACKGROUND:Celiac disease has a strong genetic association with HLA. However, this association only explains approximately half of the sibling risk for celiac disease. Therefore, other genes must be involved in susceptibility to celiac disease. We tested for linkage to genes or loci that could play a role in pathogenes...

journal_title：BMC medical genetics

authors： Neuhausen SL,Feolo M,Farnham J,Book L,Zone JJ

更新日期：2001-01-01 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:Many hearing-loss diseases are demonstrated to have Mendelian inheritance caused by mutations in single gene. However, many deaf individuals have diseases that remain genetically unexplained. Auditory neuropathy is a sensorineural deafness in which sounds are able to be transferred into the inner ear normall...

journal_title：BMC medical genetics

authors： Tang F,Ma D,Wang Y,Qiu Y,Liu F,Wang Q,Lu Q,Shi M,Xu L,Liu M,Liang J

更新日期：2017-03-23 00:00:00

abstract：BACKGROUND:Schizophrenia is a highly heritable complex psychiatric disorder with an underlying pathophysiology that is still not well understood. Metaanalyses of schizophrenia linkage studies indicate numerous but rather large disease-associated genomic regions, whereas accumulating gene- and protein expression studies...

journal_title：BMC medical genetics

authors： Olsen L,Hansen T,Jakobsen KD,Djurovic S,Melle I,Agartz I,Hall H,Ullum H,Timm S,Wang AG,Jönsson EG,Andreassen OA,Werge T

更新日期：2008-05-06 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:We have recently developed a highly accurate urine-based test, named Urodiag®, associating FGFR3 mutation and DNA methylation assays for recurrence surveillance in patients with low-, intermediate-, and high-risk NMIBC. Previously, the detection of four FGFR3 mutations (G372C, R248C, S249C and Y375C) require...

journal_title：BMC medical genetics

authors： Roperch JP,Hennion C

更新日期：2020-05-24 00:00:00

abstract：BACKGROUND:Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be associated with abnormalities of the inner ear, such as dilatation ...

journal_title：BMC medical genetics

authors： Nonose RW,Lezirovitz K,de Mello Auricchio MTB,Batissoco AC,Yamamoto GL,Mingroni-Netto RC

更新日期：2018-05-08 00:00:00

abstract：BACKGROUND:Kidneys have an important function in blood pressure (BP) regulation and elevated BP may lead to kidney failure. Chr2p12-p13 region linked to BP traits in multiple studies harbours a potential candidate for BP and renal function, N-acetyltransferase 8 (NAT8) expressed in embryonic and adult kidney and associ...

journal_title：BMC medical genetics

authors： Juhanson P,Kepp K,Org E,Veldre G,Kelgo P,Rosenberg M,Viigimaa M,Laan M

更新日期：2008-04-10 00:00:00

abstract：BACKGROUND:Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessiv...

journal_title：BMC medical genetics

authors： Bordbar MR,Modarresi F,Farazi Fard MA,Dastsooz H,Shakib Azad N,Faghihi MA

更新日期：2017-05-03 00:00:00

abstract：BACKGROUND:Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whe...

journal_title：BMC medical genetics

authors： Merkelbach-Bruse S,Dietmaier W,Füzesi L,Gaumann A,Haller F,Kitz J,Krohn A,Mechtersheimer G,Penzel R,Schildhaus HU,Schneider-Stock R,Simon R,Wardelmann E

更新日期：2010-07-04 00:00:00

abstract：BACKGROUND:Adiponectin gene (ADIPOQ) polymorphisms have been shown to affect adiponectin serum concentration and some have been associated with breast cancer (BC) risk. The aims of this study were to describe the frequency of single nucleotide polymorphisms (SNPs) of ADIPOQ in Mexican women with BC and to determine if ...

journal_title：BMC medical genetics

authors： Cerda-Flores RM,Camarillo-Cárdenas KP,Gutiérrez-Orozco G,Villarreal-Vela MP,Garza-Guajardo R,Ponce-Camacho MA,Castruita-Ávila AL,González-Guerrero JF,Rodríguez-Sánchez IP,Calderón-Garcidueñas AL,Rodríguez-Gutierrez HF,Arellano-Barr

更新日期：2020-09-25 00:00:00

abstract：BACKGROUND:Attention deficit hyperactivity disorder (ADHD) is an etiologically complex childhood onset neurobehavioral disorder characterized by age-inappropriate inattention, hyperactivity, and impulsivity. Symptom severity varies widely and boys are diagnosed more frequently than girls. ADHD probands were reported to...

journal_title：BMC medical genetics

authors： Karmakar A,Goswami R,Saha T,Maitra S,Roychowdhury A,Panda CK,Sinha S,Ray A,Mohanakumar KP,Rajamma U,Mukhopadhyay K

更新日期：2017-10-05 00:00:00

abstract：BACKGROUND:Southern China provinces have high incidence of thalassemia, however, sporadic cases can be found in northern China as well. METHODS:People resided in north China who were suspected to have thalassemia were detected mutations by gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (RDB) analyses. Th...

journal_title：BMC medical genetics

authors： Yang Z,Zhou W,Cui Q,Qiu L,Han B

更新日期：2019-05-22 00:00:00

abstract：BACKGROUND:Congenital nephrogenic diabetes insipidus (NDI) is characterised by an inability to concentrate urine despite normal or elevated plasma levels of the antidiuretic hormone arginine vasopressin. We report a Japanese extended family with NDI caused by an 11.2-kb deletion that includes the entire AVPR2 locus and...

journal_title：BMC medical genetics

authors： Fujimoto M,Imai K,Hirata K,Kashiwagi R,Morinishi Y,Kitazawa K,Sasaki S,Arinami T,Nonoyama S,Noguchi E

更新日期：2008-05-20 00:00:00

abstract：BACKGROUND:N-terminal acetylation is a common protein modification in human cells and is catalysed by N-terminal acetyltransferases (NATs), mostly cotranslationally. The NAA10-NAA15 (NatA) protein complex is the major NAT, responsible for acetylating ~ 40% of human proteins. Recently, NAA10 germline variants were found...

journal_title：BMC medical genetics

authors： Ree R,Geithus AS,Tørring PM,Sørensen KP,Damkjær M,DDD study.,Lynch SA,Arnesen T

更新日期：2019-06-07 00:00:00

abstract：BACKGROUND:Hemoglobin A1c (HbA1c) levels diagnose diabetes, predict mortality and are associated with ten single nucleotide polymorphisms (SNPs) in white individuals. Genetic associations in other race groups are not known. We tested the hypotheses that there is race-ethnic variation in 1) HbA1c-associated risk allele ...

journal_title：BMC medical genetics

authors： Grimsby JL,Porneala BC,Vassy JL,Yang Q,Florez JC,Dupuis J,Liu T,Yesupriya A,Chang MH,Ned RM,Dowling NF,Khoury MJ,Meigs JB,MAGIC Investigators.

更新日期：2012-04-27 00:00:00