Selection for increased quorum-sensing cooperation in Pseudomonas aeruginosa through the shut-down of a drug resistance pump.
The ISME journal | 2018-10-01 | PMID 29925881
Oshri Ron D, Zrihen Keren S, Shner Itzhak and 2 more
Publication catalog
Biomedical publications with connected research
Browse 1,060,000 source-attributed publications. Article pages show available bibliographic context, indexed concepts and SPECTER2 related publications where supported by the source and graph. Missing metadata is not invented, and source retraction notices remain visible.
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Publications
Page 7811 of 10600
Potential role of PIN1 genotypes in predicting benefit from oxaliplatin-based and irinotecan-based treatment in patients with metastatic colorectal cancer.
The pharmacogenomics journal | 2018-09-01 | PMID 29925895
Suenaga Mitsukuni, Schirripa Marta, Cao Shu and 18 more
Genes: PIN1
Epigenetic inheritance mediated by coupling of RNAi and histone H3K9 methylation.
Nature | 2018-06-01 | PMID 29925950
Yu Ruby, Wang Xiaoyi, Moazed Danesh
A multiprotein supercomplex controlling oncogenic signalling in lymphoma.
Nature | 2018-08-01 | PMID 29925955
Phelan James D, Young Ryan M, Webster Daniel E and 37 more
Genes: BCR, MYD88, BTK, BCL10, CARD11, MALT1, SYK, TLR9
Expression of human mutant cyclin dependent kinase 4, Cyclin D and telomerase extends the life span but does not immortalize fibroblasts derived from loggerhead sea turtle (Caretta caretta).
Scientific reports | 2018-06-20 | PMID 29925962
Fukuda Tomokazu, Eitsuka Takahiro, Donai Kenichiro and 11 more
Genes: CDK4
Approaches and advances in the genetic causes of autoimmune disease and their implications.
Nature immunology | 2018-07-01 | PMID 29925982
Inshaw Jamie R J, Cutler Antony J, Burren Oliver S and 2 more
Clonal analysis of Salmonella-specific effector T cells reveals serovar-specific and cross-reactive T cell responses.
Nature immunology | 2018-07-01 | PMID 29925993
Napolitani Giorgio, Kurupati Prathiba, Teng Karen Wei Weng and 27 more
Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients.
Acta medica Okayama | 2018-06-01 | PMID 29926005
Morizane Shin, Ouchida Mamoru, Sunagawa Ko and 12 more
Genes: SPINK5
[GBA mutations and Parkinson's disease].
Sheng li xue bao : [Acta physiologica Sinica] | 2018-06-25 | PMID 29926071
Wang Dong-Xia, Xie Jun-Xia, Song Ning
Association of Multifocal Fibromuscular Dysplasia in Elderly Patients With a More Benign Clinical Phenotype: Data From the US Registry for Fibromuscular Dysplasia.
JAMA cardiology | 2018-08-01 | PMID 29926082
Bagh Imad, Olin Jeffrey W, Froehlich James B and 8 more
Association of LPA Variants With Risk of Coronary Disease and the Implications for Lipoprotein(a)-Lowering Therapies: A Mendelian Randomization Analysis.
JAMA cardiology | 2018-07-01 | PMID 29926099
Burgess Stephen, Ference Brian A, Staley James R and 27 more
Genes: LPA, PCSK9
Prevalence of hepatitis C virus infection and the IL28B genotype polymorphism among blood donors and high-risk populations.
Singapore medical journal | 2019-01-01 | PMID 29926111
Soh Benjy Yi-Min, Kumar Rajneesh, Ekstrom Victoria Sze-Min and 7 more
Identification of novel high-impact recessively inherited type 2 diabetes risk variants in the Greenlandic population.
Diabetologia | 2018-09-01 | PMID 29926116
Grarup Niels, Moltke Ida, Andersen Mette K and 13 more
Genes: LARGE1, ITGA1
Association between vitamin D receptor gene polymorphisms and idiopathic hypocitraturia in a Chinese Bai population.
Urolithiasis | 2019-06-01 | PMID 29926136
Li Kangjian, Luo Yuhui, Mo Yin and 3 more
Genes: VDR
Comparison of targeted next generation sequencing (NGS) versus isolated BRAF V600E analysis in patients with metastatic melanoma.
Virchows Archiv : an international journal of pathology | 2018-09-01 | PMID 29926184
Zhu Meng-Lei, Zhou Lan, Sadri Navid
Genes: BRAF
Meta-analysis of the prognostic value of CpG island methylator phenotype in rectal cancer.
International journal of colorectal disease | 2018-08-01 | PMID 29926233
Kokelaar R F, Jones H, Beynon J and 2 more
Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings.
Neurogenetics | 2018-08-01 | PMID 29926239
Caylor R C, Grote L, Thiffault I and 13 more
Genes: TSC1, TSC2
Circulating Tumor Cell Phenotype Indicates Poor Survival and Recurrence After Surgery for Hepatocellular Carcinoma.
Digestive diseases and sciences | 2018-09-01 | PMID 29926241
Ou Huohui, Huang Yu, Xiang Leyang and 7 more
Genes: AFP
Manifesting heterozygotes in McArdle disease: a myth or a reality-role of statins.
Journal of inherited metabolic disease | 2018-11-01 | PMID 29926259
Núñez-Manchón Judit, Ballester-Lopez Alfonsina, Koehorst Emma and 17 more
Genes: PYGM
Association of CD14-260 (-159) C/T and Alzheimer's disease: systematic review and trial sequential analyses.
Journal of neural transmission (Vienna, Austria : 1996) | 2018-09-01 | PMID 29926267
Wang Yan, Wu Xiaoling, Deng Xun and 3 more
Breast cancer in women with neurofibromatosis type 1 (NF1): a comprehensive case series with molecular insights into its aggressive phenotype.
Breast cancer research and treatment | 2018-10-01 | PMID 29926297
Yap Yoon-Sim, Munusamy Prabhakaran, Lim Cindy and 13 more
The concept of operational taxonomic units revisited: genomes of bacteria that are regarded as closely related are often highly dissimilar.
Folia microbiologica | 2019-01-01 | PMID 29926341
Lladó Fernández Salvador, Větrovský Tomáš, Baldrian Petr
Polymorphisms within the prolactin and growth hormone/insulin-like growth factor-1 functional pathways associated with fertility traits in Holstein cows raised in a hot-humid climate.
Tropical animal health and production | 2018-12-01 | PMID 29926362
Leyva-Corona Jose C, Reyna-Granados Javier R, Zamorano-Algandar Ricardo and 7 more
Genes: PRL, PRLR, GHR, IGFBP5, PAPPA2, PMCH, SOCS4, SOCS5
Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
Molecular biology reports | 2018-08-01 | PMID 29926385
Khan Muhammad Aman, Ullah Aman, Naeem Muhammad
Genes: CLCN7
CXCL12 chemokine and CXCR4 receptor: association with susceptibility and prognostic markers in triple negative breast cancer.
Molecular biology reports | 2018-10-01 | PMID 29926386
Guembarovski Alda Losi, Guembarovski Roberta Losi, Hirata Bruna Karina Banin and 5 more
Genes: CXCR4, CXCL12
Methylenetetrahydrofolate reductase C677T variant and hyperhomocysteinemia in subarachnoid hemorrhage patients from India.
Metabolic brain disease | 2018-10-01 | PMID 29926428
Kumar Mohit, Goudihalli Sachin, Mukherjee Kanchan and 2 more
Genes: MTHFR
Physician Knowledge of Human Genetic Variation, Beliefs About Race and Genetics, and Use of Race in Clinical Decision-making.
Journal of racial and ethnic health disparities | 2019-02-01 | PMID 29926440
Sellers Sherrill L, Cunningham Brooke A, Bonham Vence L
Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.
Developmental medicine and child neurology | 2018-12-01 | PMID 29926469
Humbertclaude Véronique, Krams Benjamin, Nogue Erika and 6 more
Genes: FGF14, KCNA1
Potentially effective method for fetal gender determination by noninvasive prenatal testing for X-linked disease.
Congenital anomalies | 2019-05-01 | PMID 29926512
Noda Yoshiteru, Kato Takema, Kato Asuka and 7 more
[Association study between the angiotensin converting enzyme gene insertion/deletion polymorphism and Qinghai Han Chinese with congenital heart disease].
Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiology | 2016-06-08 | PMID 29926615
Jing Zhao, Lin L U, Yong-Nian Liu and 2 more
Genes: ACE
[Silencing of PKG1 expression enhances the efficacy of vemurafenib against melanoma cell].
Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiology | 2017-04-08 | PMID 29926631
Liu Rong, Wan Xin, Wang Xi and 3 more
Genes: PGK1
[Reproduction,genotype identification and evaluation of APP/PS1 transgenic mice].
Zhongguo ying yong sheng li xue za zhi = Zhongguo yingyong shenglixue zazhi = Chinese journal of applied physiology | 2018-02-08 | PMID 29926672
Tan Long, Li Hai-Qiang, Li Yi-Bo and 3 more
Genes: APP
2D/3D buccal epithelial cell self-assembling as a tool for cell phenotype maintenance and fabrication of multilayered epithelial linings in vitro.
Biomedical materials (Bristol, England) | 2018-07-19 | PMID 29926804
Zurina I M, Shpichka A I, Saburina I N and 12 more
CYP3A4 gene polymorphism is correlated with individual consumption of sufentanil.
Acta anaesthesiologica Scandinavica | 2018-11-01 | PMID 29926893
Lv J, Liu F, Feng N and 4 more
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Journal of clinical laboratory analysis | 2018-11-01 | PMID 29926981
Chen Kaitian, Wu Xuan, Zong Ling and 1 more
Genes: GJB2, GJB3, GJB6
Molecular study of Cw /Cx antigens and frequency of Rh phenotypes in southeast Brazilian blood donors.
Journal of clinical laboratory analysis | 2018-10-01 | PMID 29926983
Costa Sidneia S, Souza Silva Thamy C, Chiba Akemi Kuroda and 3 more
Genes: RHCE
Association analysis of interleukin-18 gene promoter region polymorphisms and susceptibility to sporadic breast cancer in Chinese Han women.
Journal of clinical laboratory analysis | 2018-11-01 | PMID 29926984
Qiao Xuefeng, Xu Danfei, Sun Dandan and 3 more
Lotus japonicus Genetic, Mutant, and Germplasm Resources.
Current protocols in plant biology | 2018-06-01 | PMID 29927119
Hashiguchi Masatsugu, Tanaka Hidenori, Muguerza Melody and 4 more
Improving Prediction Accuracy of Binding Free Energies and Poses of HIV Integrase Complexes Using the Binding Energy Distribution Analysis Method with Flattening Potentials.
Journal of chemical information and modeling | 2018-07-23 | PMID 29927237
Xia Junchao, Flynn William, Levy Ronald M
Estrogen moderates genetic influences on binge eating during puberty: Disruption of normative processes?
Journal of abnormal psychology | 2018-07-01 | PMID 29927265
Klump Kelly L, Fowler Natasha, Mayhall Laura and 3 more
Oxytocin-related single-nucleotide polymorphisms, family environment, and psychopathic traits.
Personality disorders | 2018-11-01 | PMID 29927293
Verona Edelyn, Murphy Brett, Bresin Konrad
A functional promoter variant of the human formimidoyltransferase cyclodeaminase (FTCD) gene is associated with working memory performance in young but not older adults.
Neuropsychology | 2018-11-01 | PMID 29927301
Greenwood Pamela M, Schmidt Kevin, Lin Ming-Kuan and 3 more
Genes: FTCD
A novel requirement for ubiquitin-conjugating enzyme UBC-13 in retrograde recycling of MIG-14/Wntless and Wnt signaling.
Molecular biology of the cell | 2018-08-15 | PMID 29927348
Zhang Junbing, Liu Jinchao, Norris Anne and 2 more
Genes: UBC
Is the matched extreme case-control design more powerful than the nested case-control design?
Statistical methods in medical research | 2019-06-01 | PMID 29927359
Støer N C, Salim A, Bokenberger K and 2 more
Ribavirin-induced mutagenesis across the complete open reading frame of hepatitis C virus genotypes 1a and 3a.
The Journal of general virology | 2018-08-01 | PMID 29927371
Mejer Niels, Fahnøe Ulrik, Galli Andrea and 3 more
Epidemic spread of OXA-48 beta-lactamase in Croatia.
Journal of medical microbiology | 2018-08-01 | PMID 29927373
Bedenić Branka, Slade Mia, Starčević Lidija Žele and 18 more
Genes: VIM
Genetic diversity of pneumococcal surface protein A (PspA) in paediatric isolates of non-conjugate vaccine serotypes in Japan.
Journal of medical microbiology | 2018-08-01 | PMID 29927374
Kawaguchiya Mitsuyo, Urushibara Noriko, Aung Meiji Soe and 4 more
Dissemination of newly emerged polymyxin B sensitive Vibrio cholerae O1 containing Haitian-like genetic traits in different parts of India.
Journal of medical microbiology | 2018-09-01 | PMID 29927375
Samanta Prosenjit, Saha Rudra Narayan, Chowdhury Goutam and 6 more
[Neurological presentations of oculodentodigital dysplasia].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 2000-01-01 | PMID 29927410
Rudenskaya G E, Dyomina N A, Bliznetz E A and 3 more
Genes: GJA1
[A rare variant in the sortilin-related receptor 1 gene is associated with declined cognitive functions in the elderly].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova | 2000-01-01 | PMID 29927411
Stepanov V A, Bocharova A V, Vagaitseva K V and 7 more
Genes: SORL1
[Clinical, morphological, and prognostic features of papillary thyroid carcinoma with different BRAF mutational status assessed by immunohistochemistry].
Arkhiv patologii | 2000-01-01 | PMID 29927436
Sidorin A V, Abrosimov A Yu, Rogunovich T I and 6 more
Genes: BRAF
Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.
Clinical endocrinology | 2018-10-01 | PMID 29927501
Makri Angeliki, Bonella Maria Belen, Keil Margaret F and 8 more
Genes: MEN1
Generation and Identification of Mutations Resulting in Chronic and Age-Related Phenotypes in Mice.
Current protocols in mouse biology | 2018-06-01 | PMID 29927552
Blease Andrew, Nicol Thomas, Falcone Sara and 4 more
Loci-specific differences in blood DNA methylation in HBV-negative populations at risk for hepatocellular carcinoma development.
Epigenetics | 2018-01-01 | PMID 29927686
Lubecka Katarzyna, Flower Kirsty, Beetch Megan and 11 more
Genes: DPPA5, LSP1, BARD1, FXYD6, MAGEB3, TET1, TSPAN5
ACE I/D gene variant predicts ACE enzyme content in blood but not the ACE, UCP2, and UCP3 protein content in human skeletal muscle in the Gene SMART study.
Journal of applied physiology (Bethesda, Md. : 1985) | 2018-09-01 | PMID 29927735
Yan Xu, Dvir Noam, Jacques Macsue and 12 more
Genes: ACE, UCP3, UCP2
Phylogenetic divergence of cell biological features.
eLife | 2018-06-21 | PMID 29927740
Lynch Michael
Celastrol improves the therapeutic efficacy of EGFR-TKIs for non-small-cell lung cancer by overcoming EGFR T790M drug resistance.
Anti-cancer drugs | 2018-09-01 | PMID 29927769
Wang Ying, Liu Qiuyun, Chen Haojie and 8 more
Genes: EGFR
Influence of Serotonin Transporter SLC6A4 Genotype on the Effect of Psychosocial Stress on Cognitive Performance: An Exploratory Pilot Study.
Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology | 2018-06-01 | PMID 29927798
Beversdorf David Q, Carpenter Allen L, Alexander Jessica K and 6 more
Genes: HTT
Expression of the Marburg I Single Nucleotide Polymorphism (MI-SNP) and the Marburg II Single Nucleotide Polymorphism (MII-SNP) of the Factor VII-Activating Protease (FSAP) Gene and Risk of Coronary Artery Disease (CAD): A Pilot Study in a Single Population.
Medical science monitor : international medical journal of experimental and clinical research | 2018-06-21 | PMID 29927903
Parahuleva Mariana S, Schieffer Bernhard, Klassen Michael and 3 more
Genes: CAD
Opposing roles of microRNA Argonautes during Caenorhabditis elegans aging.
PLoS genetics | 2018-06-01 | PMID 29927939
Aalto Antti P, Nicastro Ian A, Broughton James P and 4 more
SNPs in inflammatory genes CCL11, CCL4 and MEFV in a fibromyalgia family study.
PloS one | 2018-01-01 | PMID 29927949
Zhang Zhifang, Feng Jinong, Mao Allen and 8 more
Genes: CCL11, CCL4, MEFV, CCR5
Genetic variation and population structure of Diaphorina citri using cytochrome oxidase I sequencing.
PloS one | 2018-01-01 | PMID 29927954
Fuentes A, Braswell W E, Ruiz-Arce R and 1 more
Genetic profile and patient-reported outcomes in chronic obstructive pulmonary disease: A systematic review.
PloS one | 2018-01-01 | PMID 29927965
Melro Hélder, Gomes Jorge, Moura Gabriela and 1 more
Genes: MBL2
Rht8 gene as an alternate dwarfing gene in elite Indian spring wheat cultivars.
PloS one | 2018-01-01 | PMID 29927977
Grover Gomti, Sharma Achla, Gill Harsimar S and 2 more
Investigation of Islet2a function in zebrafish embryos: Mutants and morphants differ in morphologic phenotypes and gene expression.
PloS one | 2018-01-01 | PMID 29927984
Moreno Rosa L, Williams Kristina, Jones Kenneth L and 1 more
In silico characterisation of the two-component system regulators of Streptococcus pyogenes.
PloS one | 2018-01-01 | PMID 29927994
Buckley Sean J, Timms Peter, Davies Mark R and 1 more
The Ubx Polycomb response element bypasses an unpaired Fab-8 insulator via cis transvection in Drosophila.
PloS one | 2018-01-01 | PMID 29928011
Lu Danfeng, Li Zhuoran, Li Lingling and 13 more
Genes: CTCF
Polymorphisms in the receptor for advanced glycation end-products (RAGE) gene and circulating RAGE levels as a susceptibility factor for non-alcoholic steatohepatitis (NASH).
PloS one | 2018-01-01 | PMID 29928018
Mehta Rohini, Shaw Gladys, Masschelin Peter and 5 more
Molecular characterization and antimicrobial susceptibility pattern of Streptococcus agalactiae isolated from clinical mastitis in dairy cattle.
PloS one | 2018-01-01 | PMID 29928042
Tomazi Tiago, de Souza Filho Antonio Francisco, Heinemann Marcos Bryan and 1 more
Assessment of wild grapevine (Vitis vinifera ssp. sylvestris) chlorotypes and accompanying woody species in the Eastern Adriatic region.
PloS one | 2018-01-01 | PMID 29928046
Butorac Lukrecija, Hančević Katarina, Lukšić Katarina and 4 more
Prion replication environment defines the fate of prion strain adaptation.
PLoS pathogens | 2018-06-01 | PMID 29928047
Katorcha Elizaveta, Gonzalez-Montalban Nuria, Makarava Natallia and 2 more
Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer.
PloS one | 2018-01-01 | PMID 29928061
Huhn Stefanie, da Silva Filho Miguel I, Sanmuganantham Tharmila and 22 more
Genes: NLRP5
Novel antibody reagents for characterization of drug- and tumor microenvironment-induced changes in epithelial-mesenchymal transition and cancer stem cells.
PloS one | 2018-01-01 | PMID 29928062
Navas Tony, Pfister Thomas D, Colantonio Simona and 16 more
Gestational Hypothyroxinemia Affects Its Offspring With a Reduced Suppressive Capacity Impairing the Outcome of the Experimental Autoimmune Encephalomyelitis.
Frontiers in immunology | 2018-01-01 | PMID 29928277
Haensgen Henny, Albornoz Eduardo, Opazo María C and 11 more
Tfh1 Cells in Germinal Centers During Chronic HIV/SIV Infection.
Frontiers in immunology | 2018-01-01 | PMID 29928280
Velu Vijayakumar, Mylvaganam Geetha, Ibegbu Chris and 1 more
Genes: CXCR5
X chromosome protects against bladder cancer in females via a KDM6A-dependent epigenetic mechanism.
Science advances | 2018-06-01 | PMID 29928692
Kaneko Satoshi, Li Xue
Altered synaptic and firing properties of cerebellar Purkinje cells in a mouse model of ARSACS.
The Journal of physiology | 2018-09-01 | PMID 29928778
Ady Visou, Toscano-Márquez Brenda, Nath Moushumi and 8 more
Genes: DCN
Enrichment of Innate Lymphoid Cell Populations in Gingival Tissue.
Journal of dental research | 2018-11-01 | PMID 29928824
Brown J L, Campbell L, Malcolm J and 3 more
The transcription factor Tfap2e/AP-2ε plays a pivotal role in maintaining the identity of basal vomeronasal sensory neurons.
Developmental biology | 2018-09-01 | PMID 29928868
Lin Jennifer M, Taroc Ed Zandro M, Frias Jesus A and 4 more
Mouse model of chorea-acanthocytosis exhibits male infertility caused by impaired sperm motility as a result of ultrastructural morphological abnormalities in the mitochondrial sheath in the sperm midpiece.
Biochemical and biophysical research communications | 2018-09-05 | PMID 29928881
Nagata Omi, Nakamura Masayuki, Sakimoto Hitoshi and 4 more
Focus on increased serum angiotensin-converting enzyme level: From granulomatous diseases to genetic mutations.
Clinical biochemistry | 2018-09-01 | PMID 29928904
Lopez-Sublet Marilucy, Caratti di Lanzacco Lorenzo, Danser A H Jan and 3 more
Genes: ACE
Site-specific differences in osteoblast phenotype, mechanical loading response and estrogen receptor-related gene expression.
Molecular and cellular endocrinology | 2018-12-05 | PMID 29928929
Gharibi Borzo, Ghuman Mandeep S, Cama Giuseppe and 3 more
Genes: RERG, FGF2
The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency anemia.
Gene | 2018-10-05 | PMID 29928945
Batar Bahadir, Bavunoglu Isil, Hacioglu Yalcin and 9 more
Genes: TMPRSS6
Long term exposure to environmental concentrations of diesel exhaust particles does not impact the phenotype of human bronchial epithelial cells.
Toxicology in vitro : an international journal published in association with BIBRA | 2018-10-01 | PMID 29928969
Savary Camille C, Bellamri Nessrine, Morzadec Claudie and 3 more
The MELAS mutation m.3243A>G promotes reactivation of fetal cardiac genes and an epithelial-mesenchymal transition-like program via dysregulation of miRNAs.
Biochimica et biophysica acta. Molecular basis of disease | 2018-09-01 | PMID 29928977
Meseguer Salvador, Panadero Joaquin, Navarro-González Carmen and 4 more
Genes: ISL1, NODAL, RHOA, RXRB
Urate mitigates oxidative stress and motor neuron toxicity of astrocytes derived from ALS-linked SOD1G93A mutant mice.
Molecular and cellular neurosciences | 2018-10-01 | PMID 29928993
Bakshi Rachit, Xu Yuehang, Mueller Kaly A and 5 more
Genes: SOD1
Molecular evaluation of pvdhfr and pvmdr-1 mutants in Plasmodium vivax isolates after treatment with sulfadoxine/pyrimethamine and chloroquine in Iran during 2001-2016.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-10-01 | PMID 29929007
Parsaei Mahdi, Raeisi Ahmad, Spotin Adel and 7 more
A case report on a novel MT-ATP6 gene variation in atypical mitochondrial Leigh syndrome associated with bilateral basal ganglia calcifications.
Mitochondrion | 2019-05-01 | PMID 29929013
Angural Arshia, Sharma Indu, Pandoh Pranav and 7 more
Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1.
Bone | 2018-09-01 | PMID 29929043
Palagano Eleonora, Zuccarini Giulia, Prontera Paolo and 12 more
Genes: NBAS
Kcnj6(GIRK2) trisomy is not sufficient for conferring the susceptibility to infantile spasms seen in the Ts65Dn mouse model of down syndrome.
Epilepsy research | 2018-09-01 | PMID 29929098
Joshi Krutika, Shen Lily, Cao Feng and 4 more
The adult motor phenotype of Dravet syndrome is associated with mutation of the STXBP1 gene and responds well to cannabidiol treatment.
Seizure | 2018-08-01 | PMID 29929108
Álvarez Bravo Gary, Yusta Izquierdo Antonio
Genes: STXBP1
NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Stem cell research | 2018-07-01 | PMID 29929116
Higelin Julia, Catanese Alberto, Semelink-Sedlacek Lena Luisa and 9 more
Genes: NEK1, FUS
Association of genetic polymorphisms of telomere binding proteins with cholinesterase activity in omethoate-exposed workers.
Ecotoxicology and environmental safety | 2018-10-01 | PMID 29929132
Ding Mingcui, Yang Yongli, Duan Xiaoran and 14 more
Genes: POT1, TERT
Prothrombotic mechanisms in patients with congenital p.Cys89Tyr mutation in CD59.
Thrombosis research | 2018-08-01 | PMID 29929138
Tabib Adi, Hindi Issam, Karbian Netanel and 3 more
Genetic diversity of bovine Mycobacterium avium subsp. paratuberculosis discriminated by IS1311 PCR-REA, MIRU-VNTR, and MLSSR genotyping.
Journal of veterinary science | 2018-09-30 | PMID 29929361
Park Hong-Tae, Park Hyun-Eui, Park Woo Bin and 4 more
Identification of genetic variants associated with dengue or West Nile virus disease: a systematic review and meta-analysis.
BMC infectious diseases | 2018-06-22 | PMID 29929468
Cahill Megan E, Conley Samantha, DeWan Andrew T and 1 more
Genes: CCR5, MBL2, MICB, OAS1, PLCE1
A Chinese family affected by lynch syndrome caused by MLH1 mutation.
BMC medical genetics | 2018-06-22 | PMID 29929473
Jia Shuqin, Zhang Meng, Sun Yu and 4 more
Genes: MLH1
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
BMC ophthalmology | 2018-06-22 | PMID 29929488
Al-Rakan Maha A, Abothnain Manal D, Alrifai Muhammad T and 1 more
Genes: ERG
Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency.
Molecular neurodegeneration | 2018-06-22 | PMID 29929528
Arrant Andrew E, Nicholson Alexandra M, Zhou Xiaolai and 2 more
Genes: GRN, NCL
Pan-cancer adaptive immune resistance as defined by the Tumor Inflammation Signature (TIS): results from The Cancer Genome Atlas (TCGA).
Journal for immunotherapy of cancer | 2018-06-22 | PMID 29929551
Danaher Patrick, Warren Sarah, Lu Rongze and 6 more