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Exon sequencing

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https://www.readbyqxmd.com/read/28938448/novel-autosomal-dominant-pth-gene-signal-sequence-mutation-in-a-family-with-familial-isolated-hypoparathyroidism
#1
Luigia Cinque, Angelo Sparaneo, Laura Penta, Amedea Mencarelli, Daniela Rogaia, Susanna Esposito, Federico Pio Fabrizio, Filomena Baorda, Alberto Verrotti, Alberto Falorni, Gabriela Stangoni, Geoffrey N Hendy, Vito Guarnieri, Paolo Prontera
Context: Familial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein alpha 11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only 4 cases with homozygous and 2 cases with heterozygous mutations in the PTH gene have been reported. Objective: To clinically describe an FIH family and identify and characterize the causal gene mutation...
August 18, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28936921/osteopontin-c-isoform-levels-are-associated-with-sr-and-hnrnp-differential-expression-in-ovarian-cancer-cell-lines
#2
Durval Santos Marques, Jessica Grativol, Rodrigo Alves da Silva Peres, Aline da Rocha Matos, Etel Rodrigues Pereira Gimba
Osteopontin-c splicing isoform activates ovarian cancer progression features. Imbalanced expression of splicing factors from serine/arginine -rich and heterogeneous ribonucleoproteins families has been correlated with the generation of oncogenic splicing isoforms. Our goal was to investigate whether there is any association between the transcriptional patterns of these splicing factors in ovarian cells and osteopontin-c expression levels. We also aimed to investigate the occurrence of these splicing factors binding sites inside osteopontin exon 4 and adjacent introns...
September 2017: Tumour Biology: the Journal of the International Society for Oncodevelopmental Biology and Medicine
https://www.readbyqxmd.com/read/28936210/novel-mutations-of-the-tetratricopeptide-repeat-domain-7a-gene-and-phenotype-genotype-comparison
#3
Reyin Lien, Yung-Feng Lin, Min-Wei Lai, Hui-Ying Weng, Ren-Chin Wu, Tang-Her Jaing, Jing-Long Huang, Shih-Feng Tsai, Wen-I Lee
The gastrointestinal tract contains the largest lymphoid organ to react with pathogenic microorganisms and suppress excess inflammation. Patients with primary immunodeficiency diseases (PIDs) can suffer from refractory diarrhea. In this study, we present two siblings who began to suffer from refractory diarrhea with a poor response to aggressive antibiotic and immunosuppressive treatment after surgical release of neonatal intestinal obstruction. Their lymphocyte proliferation was low, but superoxide production and IL-10 signaling were normal...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28935882/clinical-and-radiological-diversity-in-genetically-confirmed-primary-familial-brain-calcification
#4
Shingo Koyama, Hidenori Sato, Ryota Kobayashi, Shinobu Kawakatsu, Masayuki Kurimura, Manabu Wada, Toru Kawanami, Takeo Kato
Primary familial brain calcification (PFBC) is a rare neuropsychiatric disorder with characteristic symmetrical brain calcifications. Patients with PFBC may have a variety of symptoms, although they also may be clinically asymptomatic. Parkinsonism is one of the most common movement disorders; however, the underlying mechanism remains unclear. This condition is typically transmitted in an autosomal dominant fashion. To date, mutations in SLC20A2, PDGFRB, PDGFB, and XPR1 have been reported to cause PFBC. The aim of the study was to identify the genetic cause of brain calcification in probands from three PFBC families and in 8 sporadic patients and to perform clinical and radiological assessments focusing on parkinsonism in mutation carriers...
September 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28935584/vih-from-the-mud-crab-is-specifically-expressed-in-the-eyestalk-and-potentially-regulated-by-transactivator-of-sox9-oct4-oct1
#5
Chunyun Liu, Xiwei Jia, Zhihua Zou, Xiaowei Wang, Yilei Wang, Ziping Zhang
Vitellogenesis-inhibiting hormone (VIH) is known to regulate ovarian maturation by suppressing the synthesis of vitellogenin (Vtg) in crustaceans, which belongs to a member of crustacean hyperglycemic hormone (CHH) family synthesized and secreted from the X-organ/sinus gland complex of eyestalks. In this study, the cDNA, genomic DNA (gDNA) and the 5'-upstream regulatory (promoter region) sequences of VIH gene were obtained by conventional PCR, genome walker and tail-PCR techniques according to our transcriptomic database of Scylla paramamosain...
September 18, 2017: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/28934986/identification-of-novel-candidate-disease-genes-from-de-novo-exonic-copy-number-variants
#6
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Zeynep Coban-Akdemir, Amber N Pursley, Sandesh C S Nagamani, Ronit Marom, Sailaja Golla, Lauren Dengle, Heather G Petrie, Reuben Matalon, Lisa Emrick, Monica B Proud, Diane Treadwell-Deering, Hsiao-Tuan Chao, Hannele Koillinen, Chester Brown, Nora Urraca, Roya Mostafavi, Saunder Bernes, Elizabeth R Roeder, Kimberly M Nugent, Patricia I Bader, Gary Bellus, Michael Cummings, Hope Northrup, Myla Ashfaq, Rachel Westman, Robert Wildin, Anita E Beck, LaDonna Immken, Lindsay Elton, Shaun Varghese, Edward Buchanan, Laurence Faivre, Mathilde Lefebvre, Christian P Schaaf, Magdalena Walkiewicz, Yaping Yang, Sung-Hae L Kang, Seema R Lalani, Carlos A Bacino, Arthur L Beaudet, Amy M Breman, Janice L Smith, Sau Wai Cheung, James R Lupski, Ankita Patel, Chad A Shaw, Paweł Stankiewicz
BACKGROUND: Exon-targeted microarrays can detect small (<1000 bp) intragenic copy number variants (CNVs), including those that affect only a single exon. This genome-wide high-sensitivity approach increases the molecular diagnosis for conditions with known disease-associated genes, enables better genotype-phenotype correlations, and facilitates variant allele detection allowing novel disease gene discovery. METHODS: We retrospectively analyzed data from 63,127 patients referred for clinical chromosomal microarray analysis (CMA) at Baylor Genetics laboratories, including 46,755 individuals tested using exon-targeted arrays, from 2007 to 2017...
September 21, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28934495/a-germline-limited-piggybac-transposase-gene-is-required-for-precise-excision-in-tetrahymena-genome-rearrangement
#7
Lifang Feng, Guangying Wang, Eileen P Hamilton, Jie Xiong, Guanxiong Yan, Kai Chen, Xiao Chen, Wen Dui, Amber Plemens, Lara Khadr, Arjune Dhanekula, Mina Juma, Hung Quang Dang, Geoffrey M Kapler, Eduardo Orias, Wei Miao, Yifan Liu
Developmentally programmed genome rearrangement accompanies differentiation of the silent germline micronucleus into the transcriptionally active somatic macronucleus in the ciliated protozoan Tetrahymena thermophila. Internal eliminated sequences (IES) are excised, followed by rejoining of MAC-destined sequences, while fragmentation occurs at conserved chromosome breakage sequences, generating macronuclear chromosomes. Some macronuclear chromosomes, referred to as non-maintained chromosomes (NMC), are lost soon after differentiation...
September 19, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28934391/homozygous-kidins220-loss-of-function-variants-in-fetuses-with-cerebral-ventriculomegaly-and-limb-contractures
#8
I-L Mero, H H Mørk, Y Sheng, A Blomhoff, G L Opheim, Aa Erichsen, M D Vigeland, K K Selmer
Heterozygous mutations in KIDINS220 were recently suggested a cause of spastic paraplegia, intellectual disability, nystagmus and obesity. All patients carried terminal nonsense de novo mutations that seemed to escape nonsense-mediated mRNA decay. The mechanism for pathogenicity is yet unexplained, as it seems that heterozygous loss-of-function variants of KIDINS220 are generally well tolerated. We present a consanguineous couple who experienced four pregnancy terminations due to repeated findings in the fetuses comprising enlarged cerebral ventricles and limb contractures...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28932927/screening-for-germline-mutations-in-mismatch-repair-genes-in-patients-with-lynch-syndrome-by-next-generation-sequencing
#9
Barbara Luísa Soares, Ayslan Castro Brant, Renan Gomes, Tatiane Pastor, Naye Balzan Schneider, Ândrea Ribeiro-Dos-Santos, Paulo Pimentel de Assumpção, Maria Isabel W Achatz, Patrícia Ashton-Prolla, Miguel Angelo Martins Moreira
Lynch syndrome (LS) is an autosomal dominant disorder, with high penetrance that affects approximately 3% of the cases of colorectal cancer. Affected individuals inherit germline mutations in genes responsible for DNA mismatch repair, mainly at MSH2, MLH1, MSH6 and PMS2. The molecular screening of these individuals is frequently costly and time consuming due to the large size of these genes. In addition, PMS2 mutation detection is often a challenge because there are 16 different pseudogenes identified until now...
September 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28932395/japanese-wdr45-de-novo-mutation-diagnosed-by-exome-analysis-a-case-report
#10
Hironobu Endo, Takeshi Uenaka, Wataru Satake, Yutaka Suzuki, Hisatsugu Tachibana, Norio Chihara, Takehiro Ueda, Kenji Sekiguchi, Taniguchi-Ikeda Mariko, Hisatomo Kowa, Fumio Kanda, Tatsushi Toda
A 40-year-old Japanese woman presented with slowly progressing parkinsonism in adulthood. She had a history of epilepsy with intellectual disability in childhood. In a head magnetic resonance scan, T2-weighted imaging showed low signal intensity areas in the globus pallidus and the substantia nigra; T1-weighted imaging showed a halo in the nigra. Because the patient's symptoms and history were similar to those of patients with neurodegeneration with brain iron accumulation, we ran an exome analysis to investigate neurodegeneration with brain iron accumulation-associated genes...
July 2017: Neurology and Clinical Neuroscience
https://www.readbyqxmd.com/read/28931431/fasciclin-calcareous-corpuscle-binary-complex-mediated-protein-protein-interactions-in-taenia-solium-metacestode
#11
Chun-Seob Ahn, Jeong-Geun Kim, Young-An Bae, Seon-Hee Kim, Joo-Ho Shin, Yichao Yang, Insug Kang, Yoon Kong
BACKGROUND: Neurocysticercosis (NC) caused by Taenia solium metacestode (TsM) is a serious neurological disease of global concern. Diverse bioactive molecules involved in the long-term survival of TsM might contribute to disease progression. Fasciclin (Fas) is an extracellular protein that mediates adhesion, migration and differentiation of cells by interacting with other molecules. We hypothesized that TsMFas might bind to calcareous corpuscle (CC) through its adhesive property and participate in crucial protein-protein interactions, thus contributing to the creation of a symbiotic interactome network...
September 20, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/28930843/clinical-characteristics-of-a-kif21a-mutation-in-a-chinese-family-with-congenital-fibrosis-of-the-extraocular-muscles-type-1
#12
Huiqiong Chen, Tangbing Liu, Zhenhai Zeng, Yufei Wang, Yuanyuan Lin, Lulu Cheng, Qintuo Pan, Feng Gu, Zongming Song, Zongduan Zhang
The aim of the study is to characterize the clinical ocular phenotype with congenital fibrosis of the extraocular muscles type 1 (CFEOM1) and to confirm whether the kinesin family member 21A (KIF21A) mutation was the pathogenic gene in this Chinese family.Three affected individuals and 2 asymptomatic kinsfolk from a Chinese family underwent comprehensive ophthalmic examinations, orbital computerized tomography (CT), and postoperative histological examinations were performed in the proband. All the recruited members were screened for 3 exons (8, 20, and 21) of KIF21A mutations using the polymerase chain reaction (PCR) amplification and direct sequencing of corresponding PCR products...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28929581/gain-of-function-mutation-in-ptpn11-in-histiocytic-sarcomas-of-bernese-mountain-dogs
#13
T Thaiwong, S Sirivisoot, M Takada, V Yuzbasiyan-Gurkan, M Kiupel
Histiocytic sarcoma (HS) is an aggressive malignant neoplasm of dendritic cell origin that is common in certain breeds of dogs. High prevalence of fatal, disseminated HS has been described in Bernese Mountain Dogs (BMDs). Support for genetic predisposition to develop HS has been presented in several studies, but to date, causative genetic events have not been reported. In addition, no driver mutations have been identified in tumours. Recently, E76K gain-of-function mutation in SHP2 encoded by the PTPN11 gene has been described in human histiocytic malignancies...
September 20, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28928763/comparative-mapping-and-candidate-gene-analysis-of-ssiia-associated-with-grain-amylopectin-content-in-barley-hordeum-vulgare-l
#14
Xiangyun Fan, Juan Zhu, Wenbin Dong, Yuandong Sun, Chao Lv, Baojian Guo, Rugen Xu
Amylopectin concentration in barley endosperm has important effects on grain quality and end-use. In this study, quantitative trait locus (QTL) analysis together with genome-wide association studies (GWAS) were performed to identify markers linked to grain amylopectin content respectively using a doubled haploid (DH) population of 178 lines and a collection of 185 diverse barley germplasms both genotyped by genotyping-by-sequencing (GBS). A stable QTL on chromosome 7H and 11 associated single nucleotide polymorphisms (SNPs) were detected...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28928627/a-novel-truncation-mutation-in-crybb1-associated-with-autosomal-dominant-congenital-cataract-with-nystagmus
#15
Yan Rao, Sufang Dong, Zuhua Li, Guohua Yang, Chunyan Peng, Ming Yan, Fang Zheng
PURPOSE: To identify the potential candidate genes for a large Chinese family with autosomal dominant congenital cataract (ADCC) and nystagmus, and investigate the possible molecular mechanism underlying the role of the candidate genes in cataractogenesis. METHODS: We combined the linkage analysis and direct sequencing for the candidate genes in the linkage regions to identify the causative mutation. The molecular and bio-functional properties of the proteins encoded by the candidate genes was further explored with biophysical and biochemical studies of the recombinant wild-type and mutant proteins...
2017: Molecular Vision
https://www.readbyqxmd.com/read/28927745/apolipoprotein-m-gene-single-nucleotide-polymorphisms-discovery-in-patients-with-chronic-obstructive-pulmonary-disease-and-determined-by-the-base-quenched-probe-technique
#16
Yang Yu, Jun Zhang, Yingying Qiao, Lili Pan, Juzhang Li, Huihui Mao, Jiang Wei, Xiaoying Zhang, Ning Xu, Guanghua Luo
BACKGROUND: It has been reported increased serum apoM levels seen in the patients suffered from obstructive sleep apnoea and chronic obstructive pulmonary diseases. In the present, we further examine the prevalence of apoM gene SNPs in COPD patients. And a new method base-quenched probe technique is established. METHODS: In the present study, we first used the Roche 454 GS Junior high-throughput sequencer to analyze 6 COPD samples and 6 control samples, in these samples we found 3 interesting SNPs (rs805264, rs707922 and rs707921) and then we designed primers and probes to establish a simple and quick screening method that is a base-quench probe technique and the genotype was confirmed by melting curves...
September 16, 2017: Gene
https://www.readbyqxmd.com/read/28927238/factor-v-leiden-is-associated-with-increased-sperm-count
#17
T E van Mens, U N Joensen, Z Bochdanovits, A Takizawa, J Peter, N Jørgensen, P B Szecsi, J C M Meijers, H Weiler, E Rajpert-De Meyts, S Repping, S Middeldorp
STUDY QUESTION: Is the thrombophilia mutation factor V Leiden (FVL) associated with an increased total sperm count? SUMMARY ANSWER: Carriers of FVL have a higher total sperm count than non-FVL-carriers, which could not be explained by genetic linkage or by observations in a FVL-mouse model. WHAT IS KNOWN ALREADY: FVL has a high prevalence in Caucasians despite detrimental health effects. Carriers have been shown to have higher fecundity, which might partly explain this evolutionary paradox...
September 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28927152/expression-levels-of-fgfr3-as-a-prognostic-marker-for-the-progression-of-primary-pt1-bladder-cancer-and-its-association-with-mutation-status
#18
Ho Won Kang, Ye-Hwan Kim, Pildu Jeong, Cheol Park, Won Tae Kim, Dong Hee Ryu, Eun-Jong Cha, Yun-Sok Ha, Tae-Hwan Kim, Tae Gyun Kwon, Sung-Kwon Moon, Yung Hyun Choi, Seok-Joong Yun, Wun-Jae Kim
The present study examined the utility of fibroblast growth factor receptor 3 (FGFR3) mutation status and gene expression as a prognostic marker in primary pT1 bladder cancer (BC). A total of 120 patients with primary pT1 BC were enrolled. FGFR3 mutation status was determined by direct sequencing and FGFR3 mRNA expression level was determined by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) analysis. The results were compared with the clinicopathological parameters, and the prognostic value of FGFR3 was evaluated by Kaplan-Meier analysis and a multivariate Cox regression test...
September 2017: Oncology Letters
https://www.readbyqxmd.com/read/28926139/the-synonymous-nucleotide-substitution-rhd-1056c-g-alters-mrna-splicing-associated-with-serologically-weak-d-phenotype
#19
Sejong Chun, Jae Won Yun, Geon Park, Duck Cho
BACKGROUND: D antigen is one of the most clinically significant blood group antigens. Variation of the RHD gene can cause weak D or partial D phenotypes. While most variations are missense substitutions with amino acid changes, those without are called "silent" or "synonymous" substitutions. Synonymous substitutions often have little effect on the protein, not altering the phenotype. However, effect on splicing can affect end-product protein. We report a new synonymous variation, RHD 1056C>G, that resulted in weak D phenotype, and predicted its effect with various in silico methods...
September 19, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28924487/a-novel-stop-mutation-p-gln22-of-dax1-nr0b1-results-in-late-onset-x-linked-adrenal-hypoplasia-congenita
#20
Judith Gerards, Michael M Ritter, Elke Kaminsky, Andreas Gal, Wolfgang Hoeppner, Marcus Quinkler
DAX1 (NR0B1) is an orphan nuclear receptor, which plays an important role in development and function of the adrenal glands and gonads. Mutations in DAX1 cause X-linked adrenal hypoplasia congenita (X-linked AHC), which is characterized by adrenal insufficiency (AI) and hypogonadotropic hypogonadism (HHG). Affected boys present with adrenal failure usually in childhood and, later in life, with delayed puberty. However, patients with a late-onset form of X-linked AHC have also been described in the past years...
2017: Endocrinology, Diabetes & Metabolism Case Reports
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