Sirt6 regulates dendritic cell differentiation, maturation, and function.
Aging | 2016-01-01 | PMID 26761436
Lasigliè Denise, Boero Silvia, Bauer Inga and 10 more
Genes: CCR7, SIRT6, TNF
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 6752 of 10600
Association of TNF-α -308G>A and TNF-β +252A>G genes polymorphisms with primary immune thrombocytopenia: a North Indian study.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2016-10-01 | PMID 26761582
Yadav Deependra K, Tripathi Anil K, Kumar Ashutosh and 4 more
Genes: TNF
Contribution of protein Z gene single-nucleotide polymorphism to systemic lupus erythematosus in Egyptian patients.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis | 2016-09-01 | PMID 26761586
Yousry Sherif M, Shahin Rasha M H, El Refai Rasha M
Genes: PROZ
Photoactivation of Mutant Isocitrate Dehydrogenase 2 Reveals Rapid Cancer-Associated Metabolic and Epigenetic Changes.
Journal of the American Chemical Society | 2016-01-27 | PMID 26761588
Walker Olivia S, Elsässer Simon J, Mahesh Mohan and 3 more
Genes: IDH2
Systematic review to determine the prevalence of transmitted drug resistance mutations to rilpivirine in HIV-infected treatment-naive persons.
Antiviral therapy | 2016-01-01 | PMID 26761642
Calvez Vincent, Marcelin Anne-Genevieve, Vingerhoets Johan and 3 more
Plasma levels of apolipoprotein E and risk of ischemic heart disease in the general population.
Atherosclerosis | 2016-03-01 | PMID 26761769
Rasmussen Katrine L, Tybjærg-Hansen Anne, Nordestgaard Børge G and 1 more
Genes: APOE
Characterization of the NPC1L1 gene and proteome from an exceptional responder to ezetimibe.
Atherosclerosis | 2016-03-01 | PMID 26761771
Schweitzer Morris, Makhoul Sandra, Paliouras Miltiadis and 8 more
Gene expression test for the non-invasive diagnosis of bladder cancer: A prospective, blinded, international and multicenter validation study.
European journal of cancer (Oxford, England : 1990) | 2016-02-01 | PMID 26761785
Ribal Maria J, Mengual Lourdes, Lozano Juan J and 11 more
Phenotype HNPP (Hereditary Neuropathy With Liability to Pressure Palsies) Induced by Medical Procedures.
American journal of orthopedics (Belle Mead, N.J.) | 2016-01-01 | PMID 26761923
Kramer Mark, Ly Amy, Li Jun
Genes: PMP22
Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
Journal of clinical research in pediatric endocrinology | 2016-06-05 | PMID 26761946
Eren Erdal, Edgünlü Tuba, Asut Emre and 1 more
Genes: SRY
[Genetic diversity of the Rhizobia and screening of high-efficient growth-promoting strains isolated from Sesbania cannabina in Rudong County].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2015-09-04 | PMID 26762023
Li Xiangyue, Li Yan, Jiang Nan and 4 more
[Antibiotics-resistance and pulsed-field gel electrophoresis patterns of Shigella sonnei from different regions].
Wei sheng wu xue bao = Acta microbiologica Sinica | 2015-09-04 | PMID 26762035
Liang Beibei, Qiu Shaofu, Cui Xianyan and 6 more
[The Effect of Mutations in the Inserted Domain of ATP-Dependent Lon Protease from E. coli on the Enzyme Function].
Bioorganicheskaia khimiia | 2000-01-01 | PMID 26762095
Kudzhaev A M, Andrianova A G, Serova O V and 3 more
Expanding the diversity of DNA base modifications with N⁶-methyldeoxyadenosine.
Genome biology | 2016-01-13 | PMID 26762117
Meyer Kate D, Jaffrey Samie R
Quantitative genetics of circulating Dickkopf-related protein 1 (DKK1) in community-based sample of UK twins.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2016-06-01 | PMID 26762129
Prakash J, Williams F M K, Trofimov S and 3 more
Genes: DKK1, MAF
Association of MMP-2 gene haplotypes with thoracic aortic dissection in chinese han population.
BMC cardiovascular disorders | 2016-01-14 | PMID 26762140
Liu Ou, Li Jiachen, Xin Yi and 7 more
Identification of three new isolates of Tomato spotted wilt virus from different hosts in China: molecular diversity, phylogenetic and recombination analyses.
Virology journal | 2016-01-14 | PMID 26762153
Zhang Zhenjia, Wang Deya, Yu Chengming and 4 more
A novel bipartite UNC-101/AP-1 μ1 binding signal mediates KVS-4/Kv2.1 somatodendritic distribution in Caenorhabditis elegans.
FEBS letters | 2016-01-01 | PMID 26762178
Zhou Xin, Zeng Jia, Ouyang Chenxi and 6 more
Risk Factors for Cutaneous Squamous Cell Carcinoma Recurrence, Metastasis, and Disease-Specific Death: A Systematic Review and Meta-analysis.
JAMA dermatology | 2016-04-01 | PMID 26762219
Thompson Agnieszka K, Kelley Benjamin F, Prokop Larry J and 2 more
Intrinsic Astrocyte Heterogeneity Influences Tumor Growth in Glioma Mouse Models.
Brain pathology (Zurich, Switzerland) | 2017-01-01 | PMID 26762242
Irvin David M, McNeill Robert S, Bash Ryan E and 1 more
Genes: GFAP
TBX5 mutations contribute to early-onset atrial fibrillation in Chinese and Caucasians.
Cardiovascular research | 2016-03-01 | PMID 26762269
Ma Ji-Fang, Yang Fan, Mahida Saagar N and 18 more
Genes: TBX5, CAV1, KCNJ2, KCNQ1, PITX2
AFLP-Based Analysis of Genetic Diversity, Population Structure, and Relationships with Agronomic Traits in Rice Germplasm from North Region of Iran and World Core Germplasm Set.
Biochemical genetics | 2016-04-01 | PMID 26762294
Sorkheh Karim, Masaeli Mohammad, Chaleshtori Maryam Hosseini and 2 more
Hedgehog signaling pathway: a novel model and molecular mechanisms of signal transduction.
Cellular and molecular life sciences : CMLS | 2016-04-01 | PMID 26762301
Gorojankina Tatiana
Clinically advanced and metastatic pure mucinous carcinoma of the breast: a comprehensive genomic profiling study.
Breast cancer research and treatment | 2016-01-01 | PMID 26762307
Ross Jeffrey S, Gay Laurie M, Nozad Sahar and 10 more
Genes: ERBB2, FGFR1, AKT3, BRCA1, CCND1, ESR1, FGF19, FGF3
Soft matrices inhibit cell proliferation and inactivate the fibrotic phenotype of deep endometriotic stromal cells in vitro.
Human reproduction (Oxford, England) | 2016-03-01 | PMID 26762314
Matsuzaki Sachiko, Canis Michel, Pouly Jean-Luc and 1 more
Genes: DES
CYP1A2 genotype affects carbamazepine pharmacokinetics in children with epilepsy.
European journal of clinical pharmacology | 2016-04-01 | PMID 26762380
Djordjevic Natasa, Milovanovic Dragana Dragas, Radovanovic Marija and 6 more
Polymorphisms of the immune-modulating receptor dectin-1 in pigs: their functional influence and distribution in pig populations.
Immunogenetics | 2016-04-01 | PMID 26762386
Shinkai Hiroki, Toki Daisuke, Okumura Naohiko and 3 more
Adult nephron-specific MR-deficient mice develop a severe renal PHA-1 phenotype.
Pflugers Archiv : European journal of physiology | 2016-05-01 | PMID 26762397
Canonica Jérémie, Sergi Chloé, Maillard Marc and 8 more
Mutation analysis of EGFR and its correlation with the HPV in Indian cervical cancer patients.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2016-07-01 | PMID 26762413
Qureshi Rehana, Arora Himanshu, Biswas Shilpi and 5 more
Genes: EGFR
Alterations of the volatile metabolome in mouse models of Alzheimer's disease.
Scientific reports | 2016-01-14 | PMID 26762470
Kimball Bruce A, Wilson Donald A, Wesson Daniel W
Genes: APP
Association between toll-like receptor polymorphisms and systemic lupus erythematosus: a meta-analysis update.
Lupus | 2016-05-01 | PMID 26762473
Lee Y H, Choi S J, Ji J D and 1 more
Genes: TLR7, TLR8, TLR9, TLR4, TLR3, TLR5
A Bayesian approach to analyzing phenotype microarray data enables estimation of microbial growth parameters.
Journal of bioinformatics and computational biology | 2016-06-01 | PMID 26762475
Gerstgrasser Matthias, Nicholls Sarah, Stout Michael and 4 more
Escherichia coli N-Acetylglucosamine-1-Phosphate-Uridyltransferase/Glucosamine-1-Phosphate-Acetyltransferase (GlmU) Inhibitory Activity of Terreic Acid Isolated from Aspergillus terreus.
Journal of biomolecular screening | 2016-04-01 | PMID 26762501
Sharma Rashmi, Lambu Mallikharjuna Rao, Jamwal Urmila and 6 more
Cerebrovascular and microglial states are not altered by functional neuroinflammatory gene variant.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism | 2016-04-01 | PMID 26762507
Felsky Daniel, De Jager Philip L, Schneider Julie A and 10 more
Intrafollicular Epstein-Barr virus-positive large B cell lymphoma. A variant of "germinotropic" lymphoproliferative disorder.
Virchows Archiv : an international journal of pathology | 2016-04-01 | PMID 26762526
Lorenzi Luisa, Lonardi Silvia, Essatari Murad H M and 9 more
Genes: FOXP1, BCL2, BCL6, IGH, MYC, PAX5, STAT3
Auricular ossification: A newly recognized feature of osteoprotegerin-deficiency juvenile Paget disease.
American journal of medical genetics. Part A | 2016-04-01 | PMID 26762549
Gottesman Gary S, Madson Katherine L, McAlister William H and 4 more
Connecting Active-Site Loop Conformations and Catalysis in Triosephosphate Isomerase: Insights from a Rare Variation at Residue 96 in the Plasmodial Enzyme.
Chembiochem : a European journal of chemical biology | 2016-04-01 | PMID 26762569
Pareek Vidhi, Samanta Moumita, Joshi Niranjan V and 3 more
Role of Human Papillomavirus in Penile Carcinomas Worldwide.
European urology | 2016-05-01 | PMID 26762611
Alemany Laia, Cubilla Antonio, Halec Gordana and 40 more
Unexpected identification of a recurrent mutation in the DLX3 gene causing amelogenesis imperfecta.
Oral diseases | 2016-05-01 | PMID 26762616
Kim Y-J, Seymen F, Koruyucu M and 6 more
Genes: DLX3, ENAM
Mating Type Gene (MAT) and Itraconazole Susceptibility of Trichophyton tonsurans Strains Isolated in Japan.
Mycopathologia | 2016-06-01 | PMID 26762628
Hiruma Junichiro, Okubo Miki, Kano Rui and 5 more
Genetics of human Bardet-Biedl syndrome, an updates.
Clinical genetics | 2016-07-01 | PMID 26762677
Khan S A, Muhammad N, Khan M A and 3 more
Three new HLA class II alleles: DRB1*08:70, DQA1*01:13 and DQA1*03:01:03.
International journal of immunogenetics | 2016-04-01 | PMID 26762682
Balas A, Planelles D, García-Sánchez F and 2 more
Wide allelic heterogeneity with predominance of large IDS gene complex rearrangements in a sample of Mexican patients with Hunter syndrome.
Clinical genetics | 2016-05-01 | PMID 26762690
Alcántara-Ortigoza M A, García-de Teresa B, González-Del Angel A and 6 more
Genes: IDS, AFF2
Focused Analysis of Exome Sequencing Data for Rare Germline Mutations in Familial and Sporadic Lung Cancer.
Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer | 2016-01-01 | PMID 26762739
Liu Yanhong, Kheradmand Farrah, Davis Caleb F and 19 more
Genes: DBH, CHRNA5, CHRNB4, MAF
Modeling continuum of epithelial mesenchymal transition plasticity.
Integrative biology : quantitative biosciences from nano to macro | 2016-02-01 | PMID 26762753
Mandal Mousumi, Ghosh Biswajoy, Anura Anji and 3 more
Studying complex system: calcium oscillations as attractor of cell differentiation.
Integrative biology : quantitative biosciences from nano to macro | 2016-02-01 | PMID 26762767
Pinto Mauro C X, Tonelli Fernanda M P, Vieira André L G and 3 more
Molecular and immunological characterization of DNA ligase IV deficiency.
Clinical immunology (Orlando, Fla.) | 2016-02-01 | PMID 26762768
Jiang Jinqiu, Tang Wenjing, An Yunfei and 4 more
Genes: LIG4
The low EOMES/TBX21 molecular phenotype in multiple sclerosis reflects CD56+ cell dysregulation and is affected by immunomodulatory therapies.
Clinical immunology (Orlando, Fla.) | 2016-02-01 | PMID 26762769
McKay Fiona C, Gatt Prudence N, Fewings Nicole and 11 more
Genes: EOMES, TBX21
Toxoplasmosis in the Caribbean islands: literature review, seroprevalence in pregnant women in ten countries, isolation of viable Toxoplasma gondii from dogs from St. Kitts, West Indies with report of new T. gondii genetic types.
Parasitology research | 2016-04-01 | PMID 26762861
Dubey Jitender P, Verma Shiv Kumar, Villena Isabelle and 6 more
Sterol composition of virgin olive oil of forty-three olive cultivars from the World Collection Olive Germplasm Bank of Cordoba.
Journal of the science of food and agriculture | 2016-09-01 | PMID 26762864
Kyçyk Onejda, Aguilera Maria Paz, Gaforio José Juan and 2 more
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.
Mitochondrion | 2016-03-01 | PMID 26762927
Bindu Parayil Sankaran, Govindaraju Chikanna, Sonam Kothari and 13 more
Genes: SURF1, POLG
Robust and stable gene selection via Maximum-Minimum Correntropy Criterion.
Genomics | 2016-03-01 | PMID 26762945
Mohammadi Majid, Sharifi Noghabi Hossein, Abed Hodtani Ghosheh and 1 more
Selection-free gene repair after adenoviral vector transduction of designer nucleases: rescue of dystrophin synthesis in DMD muscle cell populations.
Nucleic acids research | 2016-02-18 | PMID 26762977
Maggio Ignazio, Stefanucci Luca, Janssen Josephine M and 4 more
Genes: DMD, RGN
Chi hotspots trigger a conformational change in the helicase-like domain of AddAB to activate homologous recombination.
Nucleic acids research | 2016-04-07 | PMID 26762979
Gilhooly Neville S, Carrasco Carolina, Gollnick Benjamin and 4 more
Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.
Cephalalgia : an international journal of headache | 2016-11-01 | PMID 26763045
Fan Chunxiang, Wolking Stefan, Lehmann-Horn Frank and 6 more
Life span and reproductive cost explain interspecific variation in the optimal onset of reproduction.
Evolution; international journal of organic evolution | 2016-02-01 | PMID 26763090
Mourocq Emeline, Bize Pierre, Bouwhuis Sandra and 21 more
The Red Queen lives: Epistasis between linked resistance loci.
Evolution; international journal of organic evolution | 2016-02-01 | PMID 26763092
Metzger César M J A, Luijckx Pepijn, Bento Gilberto and 2 more
Plant α-glucan phosphatases SEX4 and LSF2 display different affinity for amylopectin and amylose.
FEBS letters | 2016-01-01 | PMID 26763114
Wilkens Casper, Auger Kyle D, Anderson Nolan T and 6 more
The linker between LOV2-Jα and STK plays an essential role in the kinase activation by blue light in Arabidopsis phototropin1, a plant blue light receptor.
FEBS letters | 2016-01-01 | PMID 26763121
Kashojiya Sachiko, Yoshihara Shizue, Okajima Koji and 1 more
Regulation of Bax/mitochondria interaction by AKT.
FEBS letters | 2016-01-01 | PMID 26763134
Simonyan Lilit, Renault Thibaud T, Novais Maria João da Costa and 5 more
Genes: AKT1
Evidence for the effect of serotonin receptor 1A gene (HTR1A) polymorphism on tractability in Thoroughbred horses.
Animal genetics | 2016-02-01 | PMID 26763159
Hori Y, Tozaki T, Nambo Y and 4 more
The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein.
Animal genetics | 2016-02-01 | PMID 26763160
Utzeri V J, Bertolini F, Ribani A and 3 more
Genes: TYR
The immunological activity of Lycium barbarum polysaccharides liposome in vitro and adjuvanticity against PCV2 in vivo.
International journal of biological macromolecules | 2016-04-01 | PMID 26763175
Bo Ruonan, Zheng Sisi, Xing Jie and 8 more
Genes: LBP, TNF
Association between AUTS2 haplotypes and alcohol dependence in a Japanese population.
Acta neuropsychiatrica | 2016-08-01 | PMID 26763194
Narita Shin, Nagahori Kenta, Nishizawa Daisuke and 4 more
Genes: AUTS2
Deep genetic structure and ecological divergence in a widespread human commensal toad.
Biology letters | 2016-01-01 | PMID 26763213
Wogan Guinevere O U, Stuart Bryan L, Iskandar Djoko T and 1 more
Matrix-driven Myosin II Mediates the Pro-fibrotic Fibroblast Phenotype.
The Journal of biological chemistry | 2016-03-18 | PMID 26763235
Southern Brian D, Grove Lisa M, Rahaman Shaik O and 10 more
Endometrial Carcinomas with POLE Exonuclease Domain Mutations Have a Favorable Prognosis.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2016-06-15 | PMID 26763250
McConechy Melissa K, Talhouk Aline, Leung Samuel and 8 more
Genes: POLE
Meta-analysis reveals PTPN22 1858C/T polymorphism confers susceptibility to rheumatoid arthritis in Caucasian but not in Asian population.
Autoimmunity | 2016-01-01 | PMID 26763276
Nabi Gowher, Akhter Naseem, Wahid Mohd and 5 more
Genes: PTPN22
Cysteine Dioxygenase Type 1 Inhibits Osteogenesis by Regulating Wnt Signaling in Primary Mouse Bone Marrow Stromal Cells.
Scientific reports | 2016-01-14 | PMID 26763277
Zhao Xuefeng, Deng Peng, Feng Jie and 5 more
Is there a relation between genetic susceptibility with cancer? A study about paraoxanase (PON1) enzyme activity in breast cancer cases.
Journal of enzyme inhibition and medicinal chemistry | 2016-12-01 | PMID 26763308
Kaya Mustafa Oğuzhan, Sinan Selma, Güler Özen Özensoy and 1 more
Genes: PON1
Overlap of copper and iron uptake systems in mitochondria in Saccharomyces cerevisiae.
Open biology | 2016-01-01 | PMID 26763345
Vest Katherine E, Wang Jing, Gammon Micah G and 5 more
TET2 Mutation in Adult T-Cell Leukemia/Lymphoma.
Journal of clinical and experimental hematopathology : JCEH | 2015-01-01 | PMID 26763362
Shimoda Kazuya, Shide Kotaro, Kameda Takuro and 17 more
Genes: TET2
HIV-1 low copy viral sequencing-A prototype assay.
Infectious diseases (London, England) | 2016-01-01 | PMID 26763384
Mellberg Tomas, Krabbe Jon, Gisslén Magnus and 1 more
Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities.
The Journal of investigative dermatology | 2016-01-01 | PMID 26763419
Vahidnezhad Hassan, Youssefian Leila, Uitto Jouni
Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.
The Journal of investigative dermatology | 2016-01-01 | PMID 26763422
Liu Ying, Snedecor Elizabeth R, Zhang Xu and 8 more
Molecular Phenotyping Small (Asian) versus Large (Western) Plaque Psoriasis Shows Common Activation of IL-17 Pathway Genes but Different Regulatory Gene Sets.
The Journal of investigative dermatology | 2016-01-01 | PMID 26763436
Kim Jaehwan, Oh Chil-Hwan, Jeon Jiehyun and 8 more
Genes: FAS
Connexin26 Mutations Causing Palmoplantar Keratoderma and Deafness Interact with Connexin43, Modifying Gap Junction and Hemichannel Properties.
The Journal of investigative dermatology | 2016-01-01 | PMID 26763442
Shuja Zunaira, Li Leping, Gupta Shashank and 2 more
Genes: GJB2
Testing of candidate single nucleotide variants associated with paclitaxel neuropathy in the trial NCCTG N08C1 (Alliance).
Cancer medicine | 2016-04-01 | PMID 26763541
Boora Ganesh K, Kanwar Rahul, Kulkarni Amit A and 6 more
Genes: ABCB1, ABCC2, CACNB2, EPHA5, FGD4, PITPNA
Concise Review: Paracrine Role of Stem Cells in Pituitary Tumors: A Focus on Adamantinomatous Craniopharyngioma.
Stem cells (Dayton, Ohio) | 2016-02-01 | PMID 26763580
Martinez-Barbera Juan Pedro, Andoniadou Cynthia L
Genes: CTNNB1
Identification and characterization of novel HLA alleles: Utility of next-generation sequencing methods.
Human immunology | 2016-04-01 | PMID 26763581
Brown Nicholas K, Kheradmand Taba, Wang Jinguo and 1 more
Endocytic function is critical for influenza A virus infection via DC-SIGN and L-SIGN.
Scientific reports | 2016-01-14 | PMID 26763587
Gillespie Leah, Roosendahl Paula, Ng Wy Ching and 3 more
Maturation and electrophysiological properties of human pluripotent stem cell-derived oligodendrocytes.
Stem cells (Dayton, Ohio) | 2016-04-01 | PMID 26763608
Livesey Matthew R, Magnani Dario, Cleary Elaine M and 10 more
Colony pace: a life-history trait affecting social insect epidemiology.
Proceedings. Biological sciences | 2016-01-13 | PMID 26763696
Buechel Séverine Denise, Schmid-Hempel Paul
Evolutionary origins of germline segregation in Metazoa: evidence for a germ stem cell lineage in the coral Orbicella faveolata (Cnidaria, Anthozoa).
Proceedings. Biological sciences | 2016-01-13 | PMID 26763699
Barfield Sarah, Aglyamova Galina V, Matz Mikhail V
Genes: GSC
Rugged adaptive landscapes shape a complex, sympatric radiation.
Proceedings. Biological sciences | 2016-01-13 | PMID 26763702
Pfaender Jobst, Hadiaty Renny K, Schliewen Ulrich K and 1 more
Experimental macroevolution.
Proceedings. Biological sciences | 2016-01-13 | PMID 26763705
Bell Graham
In vitro antimicrobial susceptibility of Alloscardovia omnicolens and molecular mechanisms of acquired resistance.
Diagnostic microbiology and infectious disease | 2016-03-01 | PMID 26763712
Isnard Christophe, Lienhard Reto, Reissier Sophie and 5 more
Transcriptome responses in alfalfa associated with tolerance to intensive animal grazing.
Scientific reports | 2016-01-14 | PMID 26763747
Wang Junjie, Zhao Yan, Ray Ian and 1 more
Functional allele and genotype frequencies of CYP1A2, CYP2B6 and iNOS among mainland Chinese Tibetan, Mongolian, Uygur and Han populations.
Journal of clinical pharmacy and therapeutics | 2016-02-01 | PMID 26763760
Qi G-Z, Zhang Z-Y, Wang X and 3 more
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
British journal of haematology | 2016-03-01 | PMID 26763766
Quarello Paola, Garelli Emanuela, Carando Adriana and 9 more
Von Hippel-Lindau disease: an evaluation of natural history and functional disability.
Neuro-oncology | 2016-07-01 | PMID 26763786
Feletti Alberto, Anglani Mariagiulia, Scarpa Bruno and 10 more
Genes: VHL
Alternative Splicing in CKD.
Journal of the American Society of Nephrology : JASN | 2016-06-01 | PMID 26763787
Stevens Megan, Oltean Sebastian
Single nucleotide polymorphisms in the Trx2/TXNIP and TrxR2 genes of the mitochondrial thioredoxin antioxidant system and the risk of diabetic retinopathy in patients with Type 2 diabetes mellitus.
Journal of diabetes and its complications | 2016-03-01 | PMID 26763822
Ramus Sara Mankoc, Cilensek Ines, Petrovic Mojca Globocnik and 3 more
Genes: TXNIP
Reduced interleukin-2 responsiveness impairs the ability of Treg cells to compete for IL-2 in nonobese diabetic mice.
Immunology and cell biology | 2016-05-01 | PMID 26763864
James Cini R, Buckle Irina, Muscate Franziska and 6 more
Effect of obesity on the association between MYL2 (rs3782889) and high-density lipoprotein cholesterol among Korean men.
Journal of human genetics | 2016-05-01 | PMID 26763873
Cho Eo Rin, Jee Yon Ho, Kim Sang Won and 1 more
Genes: MYL2
Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants.
Journal of human genetics | 2016-05-01 | PMID 26763874
Ryu Dongchan, Ryu Jihye, Lee Chaeyoung
Genes: DNAH11
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Journal of human genetics | 2016-05-01 | PMID 26763878
Fukai Ryoko, Saitsu Hirotomo, Okamoto Nobuhiko and 13 more
Genes: NALCN
KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients.
Journal of human genetics | 2016-05-01 | PMID 26763880
Kang Eunyoung, Park Sue K, Lee Jong Won and 6 more
Genes: BRCA1, BRCA2
Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride.
Journal of human genetics | 2016-05-01 | PMID 26763881
Kurano Makoto, Tsukamoto Kazuhisa, Kamitsuji Shigeo and 7 more
Genes: PCSK7, PCSK9
Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls.
Journal of human genetics | 2016-05-01 | PMID 26763882
Machiela Mitchell J, Zhou Weiyin, Caporaso Neil and 6 more