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https://www.readbyqxmd.com/read/28445975/functional-fgfr4-gly388arg-polymorphism-contributes-to-cancer-susceptibility-evidence-from-meta-analysis
#1
Si-Wei Xiong, Jianqun Ma, Fen Feng, Wen Fu, Shan-Rong Shu, Tianjiao Ma, Caixia Wu, Guo-Chang Liu, Jinhong Zhu
Fibroblast growth factor receptor 4 (FGFR4) is a member of receptor tyrosine kinase family. A functional Gly388Arg (rs351855 G>A) polymorphism in FGFR4 gene causes a glycine-to-arginine change at codon 388 within the transmembrane domain of the receptor. Although the FGFR4 rs351855 G>A polymorphism has been implicated in cancer development, its association with cancer risk remains controversial. Here, we have systematically analyzed the association between the rs351855 G>A polymorphism and cancer risk by performing a meta-analysis of 27 studies consisting of 8,682 cases and 9,731 controls...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28445716/trumping-neurodegeneration-targeting-common-pathways-regulated-by-autosomal-recessive-parkinson-s-disease-genes
#2
REVIEW
Laura Scott, Valina L Dawson, Ted M Dawson
Parkinson's disease (PD) is a neurodegenerative movement disorder characterized by the progressive loss of dopaminergic (DA) neurons. Most PD cases are sporadic; however, rare familial forms have been identified. Autosomal recessive PD (ARPD) results from mutations in Parkin, PINK1, DJ-1, and ATP13A2, while rare, atypical juvenile ARPD result from mutations in FBXO7, DNAJC6, SYNJ1, and PLA2G6. Studying these genes and their function has revealed mitochondrial quality control, protein degradation processes, and oxidative stress responses as common pathways underlying PD pathogenesis...
April 23, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28445705/mutation-characterization-and-heterodimer-analysis-of-patients-with-leukocyte-adhesion-deficiency-including-one-novel-mutation
#3
Shahram Teimourian, Martin De Boer, Dirk Roos, Anna Isaian, Ehsan Moghanloo, Sharhzad Lashkary, Bita Hassani, Hasan Mollanoori, Vahid Babaei, Asaad Azarnezhad
BACKGROUND AND AIM: Leukocyte adhesion deficiency type 1 (LAD-I) is a rare, autosomal recessive disorder of neutrophil migration, characterized by severe, recurrent bacterial infections, inadequate pus formation and impaired wound healing. The ITGB2 gene encodes the β2 integrin subunit (CD18) of the leukocyte adhesion cell molecules, and mutations in this gene cause LAD-I. The aim of the current study was to investigate the mutations in patients diagnosed with LAD-I and functional studies of the impact of two previously reported and a novel mutation on the expression of the CD18/CD11a heterodimer...
April 23, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28445285/association-between-vitamin-d-receptor-bsmi-polymorphism-and-bone-mineral-density-in-pediatric-patients-a-meta-analysis-and-systematic-review-of-observational-studies
#4
Li Bao, Mingzhi Chen, Yong Lei, Zemin Zhou, Huiping Shen, Feng Le
BACKGROUND: Vitamin D and the vitamin D receptor (VDR) are important in the metabolic processes that affect bone mineral density (BMD). However, the effect of VDR BsmI polymorphism on BMD in pediatric patients is still unclear. METHODS: Eligible studies were identified from the following electronic databases: PubMed, Embase, the Cochrane Library, and the Chinese CNKI and Wanfang databases before October 1, 2016. Data were extracted from the eligible studies, and associations between VDR BsmI polymorphism and BMD in pediatric patients were estimated with weighted mean differences (WMDs) and 95% confidence intervals (CIs)...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28444906/carbamoyl-phosphate-synthetase-1-deficiency-diagnosed-by-whole-exome-sequencing
#5
Guoqing Zhang, Yulin Chen, Huiqun Ju, Fei Bei, Jing Li, Jian Wang, Jianhua Sun, Jun Bu
BACKGROUND: Carbamoyl Phosphate Synthetase 1 deficiency (CPS1D) is a rare autosomal recessive inborn metabolic disease characterized mainly by hyperammonemia. The fatal nature of CPS1D and its similar symptoms with other urea cycle disorders (UCDs) make its diagnosis difficult, and the molecular diagnosis is hindered due to the large size of the causative gene CPS1. Therefore, the objective of the present study was to investigate the clinical applicability of exome sequencing in molecular diagnosis of CPS1D in Chinese population...
April 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28444561/a-rare-variant-in-the-fhl1-gene-associated-with-x-linked-recessive-hypoparathyroidism
#6
Nir Pillar, Oren Pleniceanu, Mingyan Fang, Limor Ziv, Einat Lahav, Shay Botchan, Le Cheng, Benjamin Dekel, Noam Shomron
Isolated familial hypoparathyroidism is an extremely rare disorder, which to date has been linked to several loci including mutations in CASR, GCM2, and PTH, as well as a rare condition defined as X-linked recessive hypoparathyroidism, previously associated with a 1.5 Mb region on Xq26-q27. Here, we report a patient with hypocalcemia-induced seizures leading to the diagnosis of primary hypoparathyroidism. Mutations in CASR, GCM2, and PTH were ruled out, while whole exome sequencing of the family suggested FHL1, located on chromosome Xq26, as the most likely causative gene variant (FHL1, exon 4, c...
April 25, 2017: Human Genetics
https://www.readbyqxmd.com/read/28444433/boundaries-of-the-thoracic-paravertebral-space-potential-risks-and-benefits-of-the-thoracic-paravertebral-block-from-an-anatomical-perspective
#7
Esther A C Bouman, Judith M Sieben, Andrea J R Balthasar, Elbert A Joosten, Hans-Fritz Gramke, Maarten van Kleef, Arno Lataster
PURPOSE: Thoracic paravertebral block (TPVB) may be an alternative to thoracic epidural analgesia. A detailed knowledge of the anatomy of the TPV-space (TPVS), content and adnexa is essential in understanding the clinical consequences of TPVB. The exploration of the posterior TPVS accessibility in this study allows (1) determination of the anatomical boundaries, content and adnexa, (2) description of an ultrasound-guided spread of low and high viscous liquid. METHODS: In two formalin-fixed specimens, stratification of the several layers and the 3D-architecture of the TPVS were dissected, observed and photographed...
April 25, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28444304/a-frequent-oligogenic-involvement-in-congenital-hypothyroidism
#8
Tiziana de Filippis, Giulia Gelmini, Elvezia Paraboschi, Maria Cristina Vigone, Marianna Di Frenna, Federica Marelli, Marco Bonomi, Alessandra Cassio, Daniela Larizza, Mirella Moro, Giorgio Radetti, Mariacarolina Salerno, Diego Ardissino, Giovanna Weber, Davide Gentilini, Fabiana Guizzardi, Stefano Duga, Luca Persani
Congenital Hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is frequently reported to be sporadic and candidate gene variations were found in < 10% of the investigated patients. Here, we characterize the involvement of 11 candidate genes through a systematic Next Generation Sequencing (NGS) analysis. The NGS was performed in 177 unrelated CH patients (94 gland-in-situ; 83 dysgenesis) and in 3,538 control subjects...
April 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28444099/association-of-the-protein-tyrosine-phosphatase-non-receptor-22-polymorphism-ptpn22-with-endometriosis-a-meta-analysis
#9
Noel Pabalan, Hamdi Jarjanazi, Denise Maria Christofolini, Bianca Bianco, Caio Parente Barbosa
Objective: To evaluate PTPN22 C1858T polymorphism and the risk of endometriosis. Methods: A meta-analysis of 10 published case-control studies (from four articles), with a total sample of 971 cases and 1,181 controls, was performed. We estimated risk (odds ratio and 95% confidence intervals) of endometriosis associations with the C1858T polymorphism. Results: A significant increased risk in all genetic models of the variant T allele with endometriosis (odds ratio: 3...
January 2017: Einstein
https://www.readbyqxmd.com/read/28443377/association-of-microrna-146a-and-microrna-149-polymorphisms-with-strokes-in-asian-populations-an-updated-meta-analysis
#10
Jiaxiu Du, Chuanju Cui, Shuling Zhang, Xiaopeng Yang, Jiyu Lou
Strokes are a major cause of disability and death worldwide. An association between microRNA-146a (miR-146a) and miR-149 polymorphisms and strokes was inconclusive. This meta-analysis aimed to reevaluate the strength of the association by searching online databases and retrieving relevant case-control studies published between 2000 and 2016. Nine articles including 8 on miR-146a rs2910164 G/C and 3 on miR-149 rs2292832 C/T in 3372 patients with stroke and 4394 controls were included. The miR-149 rs2292832 was significantly associated with the risk of a stroke under allelic (C vs T: odds ratio [OR] = 1...
January 1, 2017: Angiology
https://www.readbyqxmd.com/read/28443127/transcriptome-analysis-of-a-female-sterile-mutant-fsm-in-chinese-cabbage-brassica-campestris-ssp-pekinensis
#11
Shengnan Huang, Zhiyong Liu, Chengyu Li, Runpeng Yao, Danyang Li, Li Hou, Xiang Li, Wenjie Liu, Hui Feng
Female-sterile mutants are ideal materials for studying pistil development in plants. Here, we identified a female-sterile mutant fsm in Chinese cabbage. This mutant, which exhibited stable inheritance, was derived from Chinese cabbage DH line 'FT' using a combination of isolated microspore culture and ethyl methanesulfonate mutagenesis. Compared with the wild-type line 'FT,' the fsm plants exhibited pistil abortion, and floral organs were also relatively smaller. Genetic analysis indicated that the phenotype of fsm is controlled by a single recessive nuclear gene...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28442700/the-role-of-the-itln1-gene-rs2274907-polymorphism-in-diabetic-foot-patients
#12
Beata Mrozikiewicz-Rakowska, Agnieszka Sobczyk-Kopcioł, Konrad Szymański, Piotr Nehring, Patryk Szatkowski, Joanna Bartkowiak-Wieczorek, Anna Bogacz, Anna Aniszczuk, Wojciech Drygas, Rafał Płoski, Leszek Czupryniak
INTRODUCTION    Diabetic foot (DF) is a devastating complication of diabetes mellitus (DM) that occurs due to neuropathy and/or atherosclerosis of the lower limbs. Omentin (encoded by the ITLN1 gene) has been implicated as a protective factor in vascular complications of diabetes, likely due to its endothelial vasodilator activity and its anti-inflammatory actions. However, susceptibility to DF in terms of ITLN1 gene polymorphisms has not been studied. OBJECTIVES    This study aimed to evaluate the association between ITLN1 gene polymorphism rs2274907and the occurrence of DF in patients with type 2 diabetes mellitus (T2DM)...
April 25, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/28442542/missense-mutations-in-the-wd40-domain-of-ahi1-cause-non-syndromic-retinitis-pigmentosa
#13
Thanh-Minh T Nguyen, Sarah Hull, Ronald Roepman, L Ingeborgh van den Born, Machteld M Oud, Erik de Vrieze, Lisette Hetterschijt, Stef J F Letteboer, Sylvia E C van Beersum, Ellen A Blokland, Helger G Yntema, Frans P M Cremers, Paul A van der Zwaag, Gavin Arno, Erwin van Wijk, Andrew R Webster, Lonneke Haer-Wigman
BACKGROUND: Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1 variants cause non-syndromic retinitis pigmentosa (RP). METHODS: Exome sequencing was performed in three probands with RP. The effects of the identified missense variants in AHI1 were predicted by three-dimensional structure homology modelling...
April 25, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28442525/korean-monozygotic-twins-with-lethal-acantholytic-epidermolysis-bullosa-caused-by-two-novel-dsp-mutations
#14
Se Jin Kim, Jung Min Ko, Seung Han Shin, Ee-Kyung Kim, Han-Suk Kim, Kyung-A Lee
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene (DSP) is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously...
March 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28442396/fas-and-fas-ligand-gene-polymorphisms-in-turkish-patients-with-familial-mediterranean-fever
#15
Emine Gulce Ozel, Gulay Gulbol Duran, Muhammet Murat Çelik, Nizami Duran, Ramazan Gunesacar
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent fever, serositis, abdominal pain, arthritis, arthralgia and erysipelas like erythema. Fas and Fas ligand molecules play a central role in the apoptosis signaling of various cell types including neutrophils. Neutrophils are the major cell population involved in acute inflammation in patients with FMF and the role of Fas and Fas ligand molecules in this cells of FMF patients may be crucial. Therefore, in the present study, we aimed to investigate whether the Fas cell surface receptor gene (FAS); NM_000043...
April 22, 2017: Gene
https://www.readbyqxmd.com/read/28442266/cln5-is-cleaved-by-members-of-the-spp-sppl-family-to-produce-a-mature-soluble-protein
#16
Felix Jules, Etienne Sauvageau, Karine Dumaresq-Doiron, Javier Mazzaferri, Martina Haug-Kröper, Regina Fluhrer, Santiago Costantino, Stephane Lefrancois
The Neuronal ceroid lipofuscinoses (NCLs) are a group of recessive disorders of childhood with overlapping symptoms including vision loss, ataxia, cognitive regression and premature death. 14 different genes have been linked to NCLs (CLN1-CLN14), but the functions of the proteins encoded by the majority of these genes have not been fully elucidated. Mutations in the CLN5 gene are responsible for the Finnish variant late-infantile form of NCL (Finnish vLINCL). CLN5 is translated as a 407 amino acid transmembrane domain containing protein that is heavily glycosylated, and subsequently cleaved into a mature soluble protein...
April 22, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28441660/the-phenotype-and-outcome-of-infantile-cardiomyopathy-caused-by-a-homozygous-elac2-mutation
#17
Zarghuna M A Shinwari, Abdulrahman Almesned, Ali Alakhfash, Ahmad M Al-Rashdan, Eissa Faqeih, Zainab Al-Humaidi, Ahmed Alomrani, Malak Alghamdi, Dilek Colak, Abdullah Alwadai, Monther Rababh, Majid Al-Fayyadh, Zuhair N Al-Hassnan
OBJECTIVE: Cardiomyopathy (CMP) in children is a clinically and genetically heterogeneous group of disorders. Disease-associated mutations have been identified in more than 50 genes. Recently, mutations in the mitochondrial tRNA processing gene, ELAC2, were reported to be associated with the recessively inherited form of hypertrophic CMP (HCM). This study is aimed at describing the cardiac phenotype and outcome of ELAC2 mutation. METHODS: We performed whole exome sequencing followed by targeted mutation screening to identify the genetic etiology of severe infantile-onset CMP in 64 consanguineous Saudi families...
April 26, 2017: Cardiology
https://www.readbyqxmd.com/read/28441401/ancient-genes-establish-stress-induced-mutation-as-a-hallmark-of-cancer
#18
Luis Cisneros, Kimberly J Bussey, Adam J Orr, Milica Miočević, Charles H Lineweaver, Paul Davies
Cancer is sometimes depicted as a reversion to single cell behavior in cells adapted to live in a multicellular assembly. If this is the case, one would expect that mutation in cancer disrupts functional mechanisms that suppress cell-level traits detrimental to multicellularity. Such mechanisms should have evolved with or after the emergence of multicellularity. This leads to two related, but distinct hypotheses: 1) Somatic mutations in cancer will occur in genes that are younger than the emergence of multicellularity (1000 million years [MY]); and 2) genes that are frequently mutated in cancer and whose mutations are functionally important for the emergence of the cancer phenotype evolved within the past 1000 million years, and thus would exhibit an age distribution that is skewed to younger genes...
2017: PloS One
https://www.readbyqxmd.com/read/28440900/phosphoglycerate-dehydrogenase-phgdh-deficiency-without-epilepsy-mimicking-primary-microcephaly
#19
Antoine Poli, Yoann Vial, Damien Haye, Sandrine Passemard, Manuel Schiff, Hala Nasser, Catherine Delanoe, Emma Cuadro, Rémi Kom, Narcisse Elanga, Anne Favre, Séverine Drunat, Alain Verloes
Phosphoglycerate dehydrogenase (PHGDH) deficiency (OMIM 256520) is a rare autosomal recessive disorder of serine synthesis, with mostly severe congenital microcephaly, caused by mutations in the PHGDH gene. Fourteen patients reported to date show severe, early onset, drug resistant epilepsy. In a cohort of patients referred for primary microcephaly, compound heterozygosity for two unreported variants in PHGDG was identified by exome sequencing in a pair of sibs who died aged 4.5 months and 4.5 years. They had severe neurological involvement with congenital microcephaly, disorganized EEG, and progressive spasticity, but never had seizures...
April 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28440538/massive-nasal-polyposis-in-a-patient-with-newly-diagnosed-cystic-fibrosis
#20
Małgorzata Olszowiec-Chlebna, Krzysztof Trzciński, Iwona Stelmach
INTRODUCTION: Cystic fibrosis (CF) - is the most common fatal autosomal recessive disease in Caucasians. A number of reports have described patients who do not meet diagnostic criteria for cystic fibrosis. Atypical or nonclassic CF is characterised by normal or borderline sweat test, pancreatic sufficiency and a monosymptomatic phenotype. For these reasons clinicians should remain alert to the possibility of the occurrence of CF. CASE REPORT: We described a case presentation of massive nasal polyposis and recurrent sinusitis leading to the diagnosis ofcystic fibrosis in a 11-year-old male...
2017: Advances in Respiratory Medicine
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