The promising novel biomarkers and candidate small molecule drugs in kidney renal clear cell carcinoma: Evidence from bioinformatics analysis of high-throughput data.

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:CAP+1 [A>C] (HBB:c.-50A>C) is a rare silent β-thalassemia (β-thal) mutation. Carrier individuals of this mutation show borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. This mutation was previously reported in combination with different β-thalassemia mutations, leading to variable p...

journal_title：Molecular genetics & genomic medicine

authors： Murad H,Moassas F,Fakseh NAL

更新日期：2021-01-24 00:00:00

abstract：:Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization o...

journal_title：Molecular genetics & genomic medicine

authors： Falik Zaccai TC,Kalfon L,Klar A,Elisha MB,Hurvitz H,Weingarten G,Chechik E,Fleisher Sheffer V,Haj Yahya R,Meidan G,Gross-Kieselstein E,Bauman D,Hershkovitz S,Yaron Y,Orr-Urtreger A,Wertheimer E

更新日期：2014-01-01 00:00:00

abstract：BACKGROUND:β3-αC loop is a highly conserved structural domain across oncogene families, which is a switch for kinase activity. There have been numerous researches on mutations within β3-αC loop in EGFR, but relatively less in ERBB2, BRAF, and MAP2K1. In addition, previous studies mainly focus on β3-αC deletion in EGFR,...

journal_title：Molecular genetics & genomic medicine

authors： Zhang B,Chen Y,Dai P,Yu H,Ma J,Chen C,Zhang Y,Guan Y,Chen R,Liu T,Wang J,Yang L,Yi X,Xia X,Ma H

更新日期：2020-10-01 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:The risk of serious congenital anomaly for de novo balanced translocations is estimated to be at least 6%. We identified two apparently independent families with a balanced t(1;12)(q43;q21.1) as an outcome of a "Systematic Survey of Balanced Chromosomal Rearrangements in Finns." In the first family, carriers...

journal_title：Molecular genetics & genomic medicine

authors： Luukkonen TM,Mehrjouy MM,Pöyhönen M,Anttonen AK,Lahermo P,Ellonen P,Paulin L,Tommerup N,Palotie A,Varilo T

更新日期：2018-01-01 00:00:00

abstract：BACKGROUND:Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary disease with colorectal adenomatous polyps as the main clinical manifestations. The objective of this study was to analyze and compare the expression levels of tumor proliferation and angiogenesis-related genes in different tissue secti...

journal_title：Molecular genetics & genomic medicine

authors： Zhang Z,Wang D,Xu C,Li Y,Yu Y,Chen C,Li M,Zhang X

更新日期：2020-12-01 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: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: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: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:Beta-propeller protein-associated neurodegeneration (BPAN, OMIM 300894) is an X-linked neurodegenerative disorder caused by mutations in WDR45. WDR45 is required for autophagy, defect in WDR45 impaired autophagy which contributes for the pathogenesis of BPAN. Previously, we reported a novel de novo mutation ...

journal_title：Molecular genetics & genomic medicine

authors： Xiong Q,Li W,Li P,Zhao Z,Wu C,Xiao H

更新日期：2019-09-01 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：OBJECTIVES:This study aimed to investigate and confirm the association between 15 single nucleotide polymorphisms of four susceptibility genes (NBS1, TP53, PTEN, and BRIP1) and the susceptibility of breast cancer. METHODS:The genome DNA was extracted from peripheral blood and tumor tissues from one hundred and sevente...

journal_title：Molecular genetics & genomic medicine

authors： Li X,Li Z,Yang M,Luo Y,Hu L,Xiao Z,Huang A,Huang J

更新日期：2021-01-05 00:00:00

abstract：BACKGROUND:Preeclampsia is a serious pregnancy-specific syndrome with incompletely understood pathogenesis. Previous study has demonstrated that the decreased CXCR2 in preeclamptic placentas may contribute to the development of preeclampsia. The role of single nucleotide polymorphisms (SNPs) of CXCR2 gene in the pathog...

journal_title：Molecular genetics & genomic medicine

authors： Chen H,Zhang Y,Dai L,Song Y,Wang Y,Zhou B,Zhou R

更新日期：2019-04-01 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: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 birth year-dependent onset of breast cancer (BC) in BRCA1/2 mutation carriers suggests a risk-modifying role for reproductive and life style factors. We therefore examined possible associations between these factors and age at diagnosis. METHODS:Cox regression analysis and log-Rank testing were used to ...

journal_title：Molecular genetics & genomic medicine

authors： Rieder V,Salama M,Glöckner L,Muhr D,Berger A,Tea MK,Pfeiler G,Rappaport-Fuerhauser C,Gschwantler-Kaulich D,Weingartshofer S,Singer CF

更新日期：2015-12-10 00:00:00

abstract：BACKGROUND:General practitioners (GPs) have an increasing role in referring patients with putative mutation in BRCA1/2 genes for genetics consultation and for long-term follow-up of mutation carriers. METHODS:We compared the expectations of the GPs' role according to BRCA1/2 mutation carriers and to GPs themselves. R...

journal_title：Molecular genetics & genomic medicine

authors： Vande Perre P,Toledano D,Corsini C,Escriba E,Laporte M,Bertet H,Yauy K,Toledano A,Galibert V,Baudry K,Clotet L,Million E,Picot MC,Geneviève D,Pujol P

更新日期：2018-11-01 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:p.Ser43Asn is a very rare transthyretin (TTR) mutation leading to familial amyloidosis of transthyretin type, ATTR amyloidosis. It was previously observed in four patients worldwide and is associated almost invariably with an isolated cardiac phenotype. METHODS AND RESULTS:We report here on an Italian famil...

journal_title：Molecular genetics & genomic medicine

authors： Papathanasiou M,Carpinteiro A,Kersting D,Jakstaite AM,Hagenacker T,Schlosser TW,Rischpler C,Rassaf T,Luedike P

更新日期：2020-12-20 00:00:00

abstract：BACKGROUND:The prevalence and the role of AGG interruptions within the FMR1 gene in the normal population is unknown. In this study, we investigated the frequent of AGG loss, in one or two alleles within the normal population. The role of AGG in the FMR1 stability has been assessed by correlating AGG loss to the preval...

journal_title：Molecular genetics & genomic medicine

authors： Manor E,Gonen R,Sarussi B,Keidar-Friedman D,Kumar J,Tang HT,Tassone F

更新日期：2019-10-01 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：:Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucidated. Whereas class...

journal_title：Molecular genetics & genomic medicine

authors： Coelho AI,Trabuco M,Ramos R,Silva MJ,Tavares de Almeida I,Leandro P,Rivera I,Vicente JB

更新日期：2014-11-01 00:00:00

abstract：BACKGROUND:Submicroscopic chromosomal imbalance is associated with an increased nuchal translucency (NT). Most previous research has recommended the use of chromosomal microarray analysis (CMA) for prenatal diagnosis if the NT ≥ 3.5 mm. However, there is no current global consensus on the cutoff value for CMA. In this ...

journal_title：Molecular genetics & genomic medicine

authors： Su L,Huang H,An G,Cai M,Wu X,Li Y,Xie X,Lin Y,Wang M,Xu L

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Integrated chromosome, fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (aCGH) analyses have been effective in defining unbalanced chromosomal rearrangements. Discordant chromosome and aCGH results are rarely reported. METHODS:Routine cytogenomic analyses and literature ...

journal_title：Molecular genetics & genomic medicine

authors： Chai H,Grommisch B,DiAdamo A,Wen J,Hui P,Li P

更新日期：2019-10-01 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:Osteogenesis imperfecta (OI) is a clinically heterogeneous disease characterized by extreme skeletal fragility. It is caused by mutations in genes frequently affecting collagen biosynthesis. Mutations in CREB3L1 encoding the ER stress transducer OASIS are very rare and are only reported in pediatric patients...

journal_title：Molecular genetics & genomic medicine

authors： Cayami FK,Maugeri A,Treurniet S,Setijowati ED,Teunissen BP,Eekhoff EMW,Pals G,Faradz SM,Micha D

更新日期：2019-08-01 00:00:00

abstract：BACKGROUND:Tuberculosis (TB) is a significant worldwide health problem, and is caused by Mycobacteria tuberculosis. Recent studies have suggested that FOXO3 plays vital roles in the risk of immune-related infectious diseases such as TB. METHODS AND RESULTS:The present study aimed to evaluate FOXO3 genetic variants and...

journal_title：Molecular genetics & genomic medicine

authors： Wang B,Wang Y,Wang L,He X,He Y,Bai M,Zhu L,Zheng J,Yuan D,Jin T

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