Identification of genetic variants of LGI1 and RTN4R (NgR1) linked to schizophrenia that are defective in NgR1-LGI1 signaling.

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: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: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:Isolated cardiac arrhythmia due to a variant in CACNA1C is of recent knowledge. Most reports have been of singleton cases or of quite small families, and estimates of penetrance and expressivity have been difficult to obtain. We here describe a large pedigree, from which such estimates have been calculated. ...

journal_title：Molecular genetics & genomic medicine

authors： Gardner RJM,Crozier IG,Binfield AL,Love DR,Lehnert K,Gibson K,Lintott CJ,Snell RG,Jacobsen JC,Jones PP,Waddell-Smith KE,Kennedy MA,Skinner JR

更新日期：2019-01-01 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: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: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：: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: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:Fanconi anemia (FA) is phenotypically diverse, hereditary condition associated with bone marrow failure, multiple physical abnormalities, and an increased susceptibility to the development of malignancies. Less recognized manifestations of FA include endocrine abnormalities. International discourse has highl...

journal_title：Molecular genetics & genomic medicine

authors： Dillon B,Feben C,Segal D,du Plessis J,Reynders D,Wainwright R,Poole J,Krause A

更新日期：2020-08-01 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:Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerging genetic tests are helpful...

journal_title：Molecular genetics & genomic medicine

authors： Dai Y,Wei Y,Chen Y,Guo H,Zhong M

更新日期：2020-08-01 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:Alport syndrome is a progressive hereditary kidney disease clinically presenting with haematuria, proteinuria, and early onset end-stage renal disease, and often accompanied by hearing loss and ocular abnormalities. The inheritance is X-linked in the majority of families and caused by sequence variants in th...

journal_title：Molecular genetics & genomic medicine

authors： Helle OMB,Pedersen TH,Ousager LB,Thomassen M,Hertz JM

更新日期：2020-10-01 00:00:00

abstract：BACKGROUND:The mitochondrial DNA m.3243A>G mutation is one the most prevalent mutation causing mitochondrial disease in adult patients. Several cohort studies have used heteroplasmy levels in urinary epithelial cells (UEC) to correlate the genotype of the patients to the clinical severity. However, the interpretation o...

journal_title：Molecular genetics & genomic medicine

authors： de Laat P,Rodenburg RJ,Smeitink JAM,Janssen MCH

更新日期：2019-02-01 00:00:00

abstract：BACKGROUND:Site-1 Protease (S1P) is a Golgi-resident protein required for the activation of regulatory proteins that drive key cellular functions, including, the unfolded protein response (UPR) and lipid and cholesterol biosynthesis. While disruptions in S1P function have been widely characterized in animal models, to ...

journal_title：Molecular genetics & genomic medicine

authors： Schweitzer GG,Gan C,Bucelli RC,Wegner D,Schmidt RE,Shinawi M,Finck BN,Brookheart RT

更新日期：2019-07-01 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：BACKGROUND:Preeclampsia (PE) is a pregnancy-related hypertensive disorder, which may stem from impair placentation. Renin-angiotensin system is one of the mediators of decidualization and trophoblastic proliferation. In the present study women with PE were studied in a comparison of normotensive controls to determine w...

journal_title：Molecular genetics & genomic medicine

authors： Shaheen G,Sajid S,Razak S,Mazhar SB,Afsar T,Almajwal A,Alam I,Jahan S

更新日期：2019-07-01 00:00:00

abstract：BACKGROUND:With the implementation of a research project providing whole genome sequencing (WGS) to all pediatric cancer patients in Denmark (2016-2019), we sought to investigate healthcare professionals' views on WGS as it was actively being implemented in pediatric oncology. METHODS:Semistructured interviews were ca...

journal_title：Molecular genetics & genomic medicine

authors： Byrjalsen A,Stoltze UK,Castor A,Wahlberg A

更新日期：2020-08-01 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：BACKGROUND:Polycystic kidney disease (PKD) is the most common hereditary kidney disease. The main mutational genes causing autosomal dominant polycystic kidney disease (ADPKD) are PKD1 and PKD2 as well as some rare pathogenic genes. Unilateral PKD is rare in clinics, and its association with gene mutations is unclear. ...

journal_title：Molecular genetics & genomic medicine

authors： Wang T,Li Q,Shang S,Geng G,Xie Y,Cai G,Chen X

更新日期：2019-06-01 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:Multiple myeloma (MM) is a disease characterized by heterogeneous clinical presentations as well as complex genetic and molecular abnormalities. In MM, cytogenetic analysis is a challenge because of the low proliferation of malignant plasma cells. Thus, interphase fluorescence in situ hybridization (FISH), p...

journal_title：Molecular genetics & genomic medicine

authors： Hamdaoui H,Benlarroubia O,Ait Boujmia OK,Mossafa H,Ouldim K,Belkhayat A,Smyej I,Benrahma H,Dehbi H,Chegdani F

更新日期：2020-09-01 00:00:00

abstract：BACKGROUND:Genetic providers face the challenge of having adequate time to conduct a comprehensive evaluation. Hypermobile Ehlers-Danlos (hEDS) syndrome has a complex array of symptoms. An initial visit can involve approximately 60-80 min and an additional 45 min for the check-in and checkout process. We propose a mode...

journal_title：Molecular genetics & genomic medicine

authors： Prakash P,Eble TN,Dhar SU

更新日期：2018-11-01 00:00:00

abstract：BACKGROUND:Eight different deletions and point variants of the X-chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in the N-terminal protein coding part of CNKSR2 or with a deletion of the complete g...

journal_title：Molecular genetics & genomic medicine

authors： Polla DL,Saunders HR,de Vries BBA,van Bokhoven H,de Brouwer APM

更新日期：2019-10-01 00:00:00

abstract：BACKGROUND:Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease-causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched-chain α-keto acid dehydrogenase (BCKDH) complex. In the present study, nov...

journal_title：Molecular genetics & genomic medicine

authors： Nguyen TTN,Vu CD,Nguyen NL,Nguyen TTH,Nguyen NK,Nguyen HH

更新日期：2020-08-01 00:00:00

abstract：BACKGROUND:Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of...

journal_title：Molecular genetics & genomic medicine

authors： Radio FC,Di Meglio L,Agolini E,Bellacchio E,Rinelli M,Toscano P,Boldrini R,Novelli A,Di Meglio A,Dallapiccola B

更新日期：2018-05-01 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:Johanson-Blizzard syndrome (JBS, MIM #243800) is a very rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, nasal wing hypoplasia, hypodontia, and other abnormalities. JBS is caused by mutations of the UBR1 gene (MIM *605981), encoding a ubiquitin ligase of the N-end rule pa...

journal_title：Molecular genetics & genomic medicine

authors： Sukalo M,Schäflein E,Schanze I,Everman DB,Rezaei N,Argente J,Lorda-Sanchez I,Deshpande C,Takahashi T,Kleger A,Zenker M

更新日期：2017-11-01 00:00:00

abstract：BACKGROUND:The ECE1 gene polymorphisms have been studied as a candidate gene in essential hypertension, but no consensus has been reached. To systematically explore their possible association, a case-control study was conducted. METHODS:This study included 398 hypertensive subjects and 596 healthy volunteers as contro...

journal_title：Molecular genetics & genomic medicine

authors： Wang H,Liu J,Liu K,Liu Y,Wen J,Wang Z,Wen S

更新日期：2020-04-01 00:00:00