Medical genetics and genomic medicine in Turkey: a bright future at a new era in life sciences.

abstract：BACKGROUND:Genetic association studies for gastroschisis have highlighted several candidate variants. However, genetic basis in gastroschisis from noninvestigated heritable factors could provide new insights into the human biology for this birth defect. We aim to identify novel gastroschisis susceptibility variants by ...

journal_title：Molecular genetics & genomic medicine

authors： Salinas-Torres VM,Gallardo-Blanco HL,Salinas-Torres RA,Cerda-Flores RM,Lugo-Trampe JJ,Villarreal-Martínez DZ,Ibarra-Ramírez M,Martínez de Villarreal LE

更新日期：2020-05-01 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：:Perceptions and challenges connecting Pharmacogenomics taught in classrooms and translationing it to advance pharmacy practice rotations and healthcare settings and potential areas of development. ...

journal_title：Molecular genetics & genomic medicine

authors： Nutter SC,Gálvez-Peralta M

更新日期：2018-05-01 00:00:00

abstract：BACKGROUND:EAST syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the gene KCNJ10. Among the 14 pathogenic mutations described so far, the p.R65P mutation stands out as the most frequent one and is particularly associated with patients of Pakistani origin. As a result we aimed to estab...

journal_title：Molecular genetics & genomic medicine

authors： Abdelhadi O,Iancu D,Tekman M,Stanescu H,Bockenhauer D,Kleta R

更新日期：2016-06-07 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:Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI incl...

journal_title：Molecular genetics & genomic medicine

authors： Li L,Liu W,Xu Y,Li M,Tang Q,Yu B,Cai R,Liu S

更新日期：2020-02-01 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: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: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：:We describe the impact genomics has on the health and readiness of the military service member, highlight several examples of the current and future plans for genomic medicine within the military, discuss challenges to implementation and provide recommendations to address some of those challenges. ...

journal_title：Molecular genetics & genomic medicine

authors： De Castro MJ,Turner CE

更新日期：2017-11-01 00:00:00

abstract：BACKGROUND:Isomerism or heterotaxy syndrome is the loss of normal asymmetry of the internal thoraco-abdominal organs in the left-right axis and is associated with cardiovascular malformations. Mutations within DNAH11 can be associated with primary ciliary dyskinesia and heterotaxy syndromes. METHODS:We report a family...

journal_title：Molecular genetics & genomic medicine

authors： Namavarian A,Eid A,Goh ES,Thakur V

更新日期：2020-09-01 00:00:00

abstract：:Chromosomal microarray analysis (CMA) is now established as the first-tier cytogenetic diagnostic test for fast and accurate detection of chromosomal abnormalities in patients with developmental delay/intellectual disability (DD/ID), multiple congenital anomalies (MCA), and autism spectrum disorders (ASD). We present ...

journal_title：Molecular genetics & genomic medicine

authors： Zilina O,Teek R,Tammur P,Kuuse K,Yakoreva M,Vaidla E,Mölter-Väär T,Reimand T,Kurg A,Ounap K

更新日期：2014-03-01 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：BACKGROUND:Recently, increasing innovations improved the accuracy of next generation sequencing (NGS) data. However, the validation of all NGS variants increased the cost and turn-around time of clinical diagnosis, and therefore limited the further development of clinical applications. We aimed to comprehensively asses...

journal_title：Molecular genetics & genomic medicine

authors： Zheng J,Zhang H,Banerjee S,Li Y,Zhou J,Yang Q,Tan X,Han P,Fu Q,Cui X,Yuan Y,Zhang M,Shen R,Song H,Zhang X,Zhao L,Peng Z,Wang W,Yin Y

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:Fanconi anemia (FA) affects only one in 130,000 births, but has severe and diverse clinical consequences. It has been theorized that defects in the FA DNA cross-link repair complex lead to a spectrum of variants that are responsible for those diverse clinical phenotypes. METHODS:Using NextGen sequencing, we...

journal_title：Molecular genetics & genomic medicine

authors： Velmurugan KR,Michalak P,Kang L,Fonville NC,Garner HR

更新日期：2018-11-01 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:22q11 deletion syndrome (22qDS) is caused by deletion of chromosome region 22q11.2. However, mosaic cases with 22q11.2 deletion syndrome (22q11.2DS) are rarely reported. METHODS:Chromosomal microarray analysis (CMA) and fluorescence in situ hybridization fluorescence in situ hybridization (FISH) were perfor...

journal_title：Molecular genetics & genomic medicine

authors： Chen W,Li X,Sun L,Sheng W,Huang G

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Medulloblastomas (MBs) are a heterogeneous group of childhood brain tumors with four consensus subgroups, namely MBSHH , MBWNT , MBGroup 3 , and MBGroup 4 , representing the second most common type of pediatric brain cancer after high-grade gliomas. They suffer from a high prevalence of genetic predispositio...

journal_title：Molecular genetics & genomic medicine

authors： Tolonen JP,Hekkala A,Kuismin O,Tuominen H,Suo-Palosaari M,Tynninen O,Niinimäki R

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have...

journal_title：Molecular genetics & genomic medicine

authors： Cabanillas R,Diñeiro M,Castillo D,Pruneda PC,Penas C,Cifuentes GA,de Vicente Á,Durán NS,Álvarez R,Ordóñez GR,Cadiñanos J

更新日期：2017-04-23 00:00:00

abstract：BACKGROUND:Apolipoprotein E (ApoE) is a glycoprotein that plays an important role in lipid homeostasis at both cerebral and systemic levels. Moreover, the differential distribution of APOE gene alleles among different populations, means that ApoE isoforms could have different effects on lipids metabolism. The present s...

journal_title：Molecular genetics & genomic medicine

authors： Martínez-Magaña JJ,Genis-Mendoza AD,Tovilla-Zarate CA,González-Castro TB,Juárez-Rojop IE,Hernández-Díaz Y,Martinez-Hernandez AG,Garcia-Ortíz H,Orozco L,López-Narvaez ML,Nicolini H

更新日期：2019-11-01 00:00:00

abstract：BACKGROUND:Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized autosomal dominant synd...

journal_title：Molecular genetics & genomic medicine

authors： Pode-Shakked N,Barel O,Pode-Shakked B,Eliyahu A,Singer A,Nayshool O,Kol N,Raas-Rothschild A,Pras E,Shohat M

更新日期：2019-06-01 00:00:00

abstract：BACKGROUND:Aneurysmal subarachnoid hemorrhage (aSAH) has high fatality and permanent disability rates due to the severe damage to brain cells and inflammation. The SERPINE1 gene that encodes PAI-1 for the regulation of tissue plasminogen activator is considered an important therapeutic target for aSAH. METHODS:Six SNP...

journal_title：Molecular genetics & genomic medicine

authors： Lin M,Griessenauer CJ,Starke RM,Tubbs RS,Shoja MM,Foreman PM,Vyas NA,Walters BC,Harrigan MR,Hendrix P,Fisher WS,Pittet JF,Mathru M,Lipsky RH

更新日期：2019-08-01 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：:Genetics and genomic medicine in Cuba. ...

journal_title：Molecular genetics & genomic medicine

authors： Roblejo Balbuena H,Marcheco Teruel B

更新日期：2017-05-21 00:00:00

abstract：BACKGROUND:Plasma concentrations of antiretrovirals (ARVs) regimens have considerably varied in individuals of human immunodeficiency virus (HIV) because of variations in the expression of drug-metabolizing and transporter genes. Transporter genes play an important role in the disposition of drugs. Polymorphism in tran...

journal_title：Molecular genetics & genomic medicine

authors： Singh H,Lata S,Choudhari R,Dhole TN

更新日期：2020-06-01 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:MicroRNA-33a (miR-33a) plays the role of the tumor suppressor gene by regulating the expression level of downstream genes. However, the effects of miR-33a in renal cell cancer (RCC) remain unknown. Our study was designed to investigate the expression level and potential function of miR-33a in RCC. METHODS:R...

journal_title：Molecular genetics & genomic medicine

authors： Jiang K,Sun F,Zhu J,Luo G,Ban Y,Zhang P

更新日期：2019-08-01 00:00:00

abstract：:Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnings of NSCLP remain largely unexplained. In our previous genome-wide l...

journal_title：Molecular genetics & genomic medicine

authors： Cvjetkovic N,Maili L,Weymouth KS,Hashmi SS,Mulliken JB,Topczewski J,Letra A,Yuan Q,Blanton SH,Swindell EC,Hecht JT

更新日期：2015-09-01 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: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