Biomedical publications with connected research

Production and performance of sugarcane seeds (caryopses) from different hybridizations involving RB92579.

Anais da Academia Brasileira de Ciencias | 2000-01-01 | PMID 30043903

Diniz Carlos A, Ferreira Vilma M, Silva Clíssiab DA and 3 more

Phylogenetic analysis and genotype distribution of Hepatitis B Virus (HBV) in Roraima, Brazil.

Revista do Instituto de Medicina Tropical de Sao Paulo | 2018-07-19 | PMID 30043939

Sousa Débora Dinelly de, Silva Claudiane Raquel de Sousa, Lima Junior Wilson Pereira and 5 more

Hyper-IgE in the allergy clinic--when is it primary immunodeficiency?

Allergy | 2018-11-01 | PMID 30043993

Ponsford Mark J, Klocperk Adam, Pulvirenti Federica and 11 more

Genes: CARD11, PGM3, SPINK5, STAT3, ZNF341

Molecular Characterization of Bovine Leukaemia Virus (BLV) Strains Reveals Existence of Genotype 6 in Cattle in India with evidence of a new subgenotype.

Transboundary and emerging diseases | 2018-12-01 | PMID 30044055

Gautam Siddharth, Mishra Niranjan, Kalaiyarasu Semmannan and 2 more

Predictive biomarkers of chemotherapy-induced peripheral neuropathy: a review.

Biomarkers in medicine | 2018-08-01 | PMID 30044129

Diaz Patrick L, Furfari Anthony, Wan Bo Angela and 9 more

Genes: ARHGEF10, FGD4

Association Between the SNP rs143383 + 104T/C in the GDF5 Gene and the Risk of Knee Osteoarthritis in a Population from Northern Mexico-A Case-Control Study.

Genetic testing and molecular biomarkers | 2018-08-01 | PMID 30044130

García-Alvarado Francisco, Rosales-González Manuel, Arellano-Pérez-Vertti Daniel and 3 more

Genes: GDF5

The First Molecular Screening of MLH1 and MSH2 Genes in Moroccan Colorectal Cancer Patients Shows a Relatively High Mutational Prevalence.

Genetic testing and molecular biomarkers | 2018-08-01 | PMID 30044143

Moufid Fatima Zahra, Bouguenouch Laila, El Bouchikhi Ihssane and 6 more

Genes: MLH1, MSH2, BRAF

New candidate genes associated to endometriosis.

Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology | 2019-01-01 | PMID 30044155

Christofolini Denise Maria, Mafra Fernanda Abani, Catto Michelle Cristina and 2 more

Genes: KAZN, LAMA5, TAC3

Structural basis for potent and broad inhibition of HIV-1 RT by thiophene[3,2-d]pyrimidine non-nucleoside inhibitors.

eLife | 2018-07-25 | PMID 30044217

Yang Yang, Kang Dongwei, Nguyen Laura A and 5 more

Pre-post synaptic alignment through neuroligin-1 tunes synaptic transmission efficiency.

eLife | 2018-07-25 | PMID 30044218

Haas Kalina T, Compans Benjamin, Letellier Mathieu and 7 more

Quantification of anti-parasite and anti-disease immunity to malaria as a function of age and exposure.

eLife | 2018-07-25 | PMID 30044224

Rodriguez-Barraquer Isabel, Arinaitwe Emmanuel, Jagannathan Prasanna and 11 more

Receptor-mediated dimerization of JAK2 FERM domains is required for JAK2 activation.

eLife | 2018-07-25 | PMID 30044226

Ferrao Ryan D, Wallweber Heidi Ja, Lupardus Patrick J

Genes: JAK2, EPOR, LEPR

Next-Generation Sequencing Reveals A JAGN1 Mutation in a Syndromic Child With Intermittent Neutropenia.

Journal of pediatric hematology/oncology | 2019-05-01 | PMID 30044346

Cifaldi Cristina, Serafinelli Jessica, Petricone Davide and 11 more

Genes: JAGN1

New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis.

Spine | 2019-02-15 | PMID 30044367

Sheng Fei, Xia Chao, Xu Leilei and 5 more

Genes: FBN1, FBN2

Molecular Mapping of QTLs for Heat Tolerance in Chickpea.

International journal of molecular sciences | 2018-07-25 | PMID 30044369

Paul Pronob J, Samineni Srinivasan, Thudi Mahendar and 8 more

Inherited and Acquired Decrease in Complement Receptor 1 (CR1) Density on Red Blood Cells Associated with High Levels of Soluble CR1 in Alzheimer's Disease.

International journal of molecular sciences | 2018-07-25 | PMID 30044434

Mahmoudi Rachid, Feldman Sarah, Kisserli Aymric and 9 more

Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.

Swiss medical weekly | 2018-01-01 | PMID 30044475

Medeiros Domingo Argelia, Bolliger Stephan, Gräni Christoph and 14 more

Genes: SCD

TaWRKY51 promotes lateral root formation through negative regulation of ethylene biosynthesis in wheat (Triticum aestivum L.).

The Plant journal : for cell and molecular biology | 2018-10-01 | PMID 30044519

Hu Zhaorong, Wang Rui, Zheng Mei and 8 more

Genome-wide scans of selection highlight the impact of biotic and abiotic constraints in natural populations of the model grass Brachypodium distachyon.

The Plant journal : for cell and molecular biology | 2018-10-01 | PMID 30044522

Bourgeois Yann, Stritt Christoph, Walser Jean-Claude and 3 more

Principles and characteristics of the Arabidopsis WRKY regulatory network during early MAMP-triggered immunity.

The Plant journal : for cell and molecular biology | 2018-11-01 | PMID 30044528

Birkenbihl Rainer P, Kracher Barbara, Ross Annegret and 3 more

Peptidylarginine deiminase 4 concentration, but not PADI4 polymorphisms, is associated with ICU mortality in septic shock patients.

Journal of cellular and molecular medicine | 2018-10-01 | PMID 30044533

Costa Nara Aline, Gut Ana Lúcia, Azevedo Paula Schmidt and 13 more

Genes: PADI4

Inflammatory and Genetic Markers (APO B100 and Angiotensin-Converting Enzyme Gene) in the Coronary Artery Disease.

Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi | 2000-01-01 | PMID 30044585

Apăvăloaie Maria-Cristina, Bararu Iris, Pleşoianu Carmen Elena and 5 more

Genes: ACE, CAD

A novel human cell culture model to study visceral smooth muscle phenotypic modulation in health and disease.

American journal of physiology. Cell physiology | 2018-10-01 | PMID 30044660

Vaes Rianne D W, van den Berk Linda, Boonen Bas and 3 more

Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.

American journal of physiology. Cell physiology | 2018-11-01 | PMID 30044662

Abrams Charles K, Peinado Alejandro, Mahmoud Rola and 6 more

Ibrutinib Monotherapy in Symptomatic, Treatment-Naïve Patients With Waldenström Macroglobulinemia.

Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2018-09-20 | PMID 30044692

Treon Steven P, Gustine Joshua, Meid Kirsten and 15 more

Genes: CXCR4, MYD88

Dynamic MTORC1-TFEB feedback signaling regulates hepatic autophagy, steatosis and liver injury in long-term nutrient oversupply.

Autophagy | 2018-01-01 | PMID 30044707

Zhang Hao, Yan Shengmin, Khambu Bilon and 8 more

Genes: TFEB, MTOR, RRAGA

Roles of the fission yeast UNC-13/Munc13 protein Ync13 in late stages of cytokinesis.

Molecular biology of the cell | 2018-09-15 | PMID 30044717

Zhu Yi-Hua, Hyun Joanne, Pan Yun-Zu and 3 more

Key phosphorylation events in Spc29 and Spc42 guide multiple steps of yeast centrosome duplication.

Molecular biology of the cell | 2018-09-15 | PMID 30044722

Jones Michele Haltiner, O'Toole Eileen T, Fabritius Amy S and 4 more

A single domain antibody against the Cys- and His-rich domain of PCSK9 and evolocumab exhibit different inhibition mechanisms in humanized PCSK9 mice.

Biological chemistry | 2018-11-27 | PMID 30044755

Essalmani Rachid, Weider Elodie, Marcinkiewicz Jadwiga and 5 more

Genes: PCSK9, LDLR

Genetic variation of the transcription factor GATA3, not STAT4, is associated with the risk of type 2 diabetes in the Bangladeshi population.

PloS one | 2018-01-01 | PMID 30044774

Huda Nafiul, Hosen Md Ismail, Yasmin Tahirah and 3 more

Genes: GATA3, STAT4

Small GTPase Rab7-mediated FgAtg9 trafficking is essential for autophagy-dependent development and pathogenicity in Fusarium graminearum.

PLoS genetics | 2018-07-01 | PMID 30044782

Zheng Huawei, Miao Pengfei, Lin Xiaolian and 9 more

Automated size selection for short cell-free DNA fragments enriches for circulating tumor DNA and improves error correction during next generation sequencing.

PloS one | 2018-01-01 | PMID 30044795

Hellwig Sabine, Nix David A, Gligorich Keith M and 7 more

Positive selection on schizophrenia-associated ST8SIA2 gene in post-glacial Asia.

PloS one | 2018-01-01 | PMID 30044798

Fujito Naoko T, Satta Yoko, Hane Masaya and 6 more

The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis.

PloS one | 2018-01-01 | PMID 30044860

Fernández-Rhodes Lindsay, Malinowski Jennifer R, Wang Yujie and 42 more

Constructing a DNA barcode reference library for southern herbs in China: A resource for authentication of southern Chinese medicine.

PloS one | 2018-01-01 | PMID 30044868

Gong Lu, Qiu Xiao Hui, Huang Juan and 6 more

Fast Temperature-Gradient COLD PCR for the enrichment of the paternally inherited SNPs in cell free fetal DNA; an application to non-invasive prenatal diagnosis of β-thalassaemia.

PloS one | 2018-01-01 | PMID 30044883

Byrou Stefania, Makrigiorgos G Mike, Christofides Agathoklis and 3 more

Natural genetic variation for expression of a SWEET transporter among wild species of Solanum lycopersicum (tomato) determines the hexose composition of ripening tomato fruit.

The Plant journal : for cell and molecular biology | 2018-10-01 | PMID 30044900

Shammai Arik, Petreikov Marina, Yeselson Yelena and 19 more

Assessing the in vitro activity of ceftazidime/avibactam and aztreonam among carbapenemase-producing Enterobacteriaceae: Defining the zone of hope.

International journal of antimicrobial agents | 2018-11-01 | PMID 30044946

Avery Lindsay M, Nicolau David P

Genes: CPE, ATM

ATPase and Protease Domain Movements in the Bacterial AAA+ Protease FtsH Are Driven by Thermal Fluctuations.

Journal of molecular biology | 2018-10-26 | PMID 30044948

Ruer Martine, Krainer Georg, Gröger Philip and 1 more

Genes: SPG7

Functionality of Redox-Active Cysteines Is Required for Restriction of Retroviral Replication by SAMHD1.

Cell reports | 2018-07-24 | PMID 30044979

Wang Zhonghua, Bhattacharya Akash, White Tommy and 10 more

Genes: SAMHD1

Insights into the Mutational Burden of Human Induced Pluripotent Stem Cells from an Integrative Multi-Omics Approach.

Cell reports | 2018-07-24 | PMID 30044985

D'Antonio Matteo, Benaglio Paola, Jakubosky David and 7 more

BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor.

Cell reports | 2018-07-24 | PMID 30044990

Priyadarshini Raina, Hussain Mansoor, Attri Preeti and 8 more

Genes: BLM, MIB1

Impact on the Onset of Psychosis of a Polygenic Schizophrenia-Related Risk Score and Changes in White Matter Volume.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2018-01-01 | PMID 30045020

Harrisberger Fabienne, Smieskova Renata, Egli Tobias and 5 more

Interplay between Type 1 Diabetes Mellitus and Celiac Disease: Implications in Treatment.

Digestive diseases (Basel, Switzerland) | 2018-01-01 | PMID 30045024

Kaur Navchetan, Bhadada Sanjay K, Minz Ranjana W and 2 more

Molecular Profiling of Salivary Gland Intraductal Carcinoma Revealed a Subset of Tumors Harboring NCOA4-RET and Novel TRIM27-RET Fusions: A Report of 17 cases.

The American journal of surgical pathology | 2018-11-01 | PMID 30045065

Skálová Alena, Vanecek Tomas, Uro-Coste Emmanuelle and 12 more

Genes: RET, NCOA4, ETV6, TRIM27, NTRK3

Treatment responses to antiangiogenetic therapy and chemotherapy in nonsecreting paraganglioma (PGL4) of urinary bladder with SDHB mutation: A case report.

Medicine | 2018-07-01 | PMID 30045248

Stigliano Antonio, Lardo Pina, Cerquetti Lidia and 8 more

Genes: SDHB

Mutation of glucose-6-phosphate dehydrogenase deficiency in Chinese Han children in eastern Fujian.

Medicine | 2018-07-01 | PMID 30045279

Chen Yao, Xiu Wenlong, Dong Yi and 12 more

A network meta-analysis of nonsmall-cell lung cancer patients with an activating EGFR mutation: Should osimertinib be the first-line treatment?

Medicine | 2018-07-01 | PMID 30045282

Lin Jia-Zhou, Ma Song-Kun, Wu Sheng-Xi and 2 more

Genes: EGFR

Association between IL-1β + 3954C/T polymorphism and myocardial infarction risk: A meta-analysis.

Medicine | 2018-07-01 | PMID 30045312

Fang Yizhen, Xie Huabin, Lin Zhiyuan

The peripheral blood neutrophil-to-lymphocyte ratio is a prognostic predictor for survival of EGFR-mutant nonsmall cell lung cancer patients treated with EGFR-TKIs.

Medicine | 2018-07-01 | PMID 30045314

Zhang Yuan, Feng Yang-Chun, Zhu Hong-Ge and 5 more

Genes: EGFR

Effects of CYP3A5 and UGT2B7 variants on steady-state carbamazepine concentrations in Chinese epileptic patients.

Medicine | 2018-07-01 | PMID 30045320

Lu Qiong, Huang Yuan-Tao, Shu Yi and 4 more

Serum vitamin D level and vitamin D receptor genotypes may be associated with tuberculosis clinical characteristics: A case-control study.

Medicine | 2018-07-01 | PMID 30045341

Zhang Ye, Zhu Hui, Yang Xinting and 4 more

Genes: VDR

Evaluation of Omeprazole Limited Sampling Strategies to Estimate Constitutive Cytochrome P450 2C19 Activity in Healthy Adults.

Therapeutic drug monitoring | 2018-12-01 | PMID 30045358

Lin Swan, Nikanjam Mina, Capparelli Edmund V and 10 more

Genes: LSS

Pyruvate Carboxylase Deficiency Type C: A Rare Cause of Acute Transient Flaccid Paralysis with Ketoacidosis.

Neuropediatrics | 2018-12-01 | PMID 30045381

Almomen Momen, Sinclair Graham, Stockler-Ipsiroglu Sylvia G and 1 more

Supplementation with trans fatty acid at 1% energy did not increase serum cholesterol irrespective of the obesity-related genotypes in healthy adult Japanese.

Asia Pacific journal of clinical nutrition | 2000-01-01 | PMID 30045424

Takeuchi Hiroyuki, Futatsuya Chiaki, Miki Akari and 2 more

Genetic variations of vitamin D receptor gene in metabolic syndrome and related diseases in the Thai population.

Asia Pacific journal of clinical nutrition | 2000-01-01 | PMID 30045441

Karuwanarint Piyaporn, Phonrat Benjaluck, Tungtrongchitr Anchalee and 3 more

Genes: VDR

Tex10 is upregulated and promotes cancer stem cell properties and chemoresistance in hepatocellular carcinoma.

Cell cycle (Georgetown, Tex.) | 2018-01-01 | PMID 30045663

Xiang Xiaocong, Deng Li, Xiong Rong and 5 more

Genes: STAT3

Recognition of cancer mutations in histone H3K36 by epigenetic writers and readers.

Epigenetics | 2018-01-01 | PMID 30045670

Klein Brianna J, Krajewski Krzysztof, Restrepo Susana and 3 more

Exome Sequencing of Fresh-frozen or Formalin-fixed Paraffin-embedded B6C3F1/N Mouse Hepatocellular Carcinomas Arising Either Spontaneously or due to Chronic Chemical Exposure.

Toxicologic pathology | 2018-08-01 | PMID 30045675

Auerbach Scott S, Xu Miaofei, Merrick B Alex and 9 more

Delirium Phenotype by Age and Sex in a Pooled Data Set of Adult Patients.

The Journal of neuropsychiatry and clinical neurosciences | 2018-01-01 | PMID 30045679

Trzepacz Paula T, Franco José G, Meagher David J and 9 more

Hypercoagulable states in arterial and venous thrombosis: When, how, and who to test?

Vascular medicine (London, England) | 2018-08-01 | PMID 30045685

Carroll Brett J, Piazza Gregory

Association of Catechol-O-methyltransferase (COMT Val158Met) with future risk of cardiovascular disease in depressed individuals - a Swedish population-based cohort study.

BMC medical genetics | 2018-07-25 | PMID 30045690

Almas Aysha, Forsell Yvonne, Millischer Vincent and 2 more

Genes: COMT

CIGene: a literature-based online resource for cancer initiation genes.

BMC genomics | 2018-07-25 | PMID 30045691

Liu Yining, Luo Mingyu, Li Qijun and 3 more

Functional characterization of enhancer evolution in the primate lineage.

Genome biology | 2018-07-25 | PMID 30045748

Klein Jason C, Keith Aidan, Agarwal Vikram and 2 more

DNA methylation analysis on purified neurons and glia dissects age and Alzheimer's disease-specific changes in the human cortex.

Epigenetics & chromatin | 2018-07-25 | PMID 30045751

Gasparoni Gilles, Bultmann Sebastian, Lutsik Pavlo and 14 more

Genes: ANK1, ADAM17, APP, CLU, CXXC5, HOXA3, MAP2, NCOR2

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Alzheimer's research & therapy | 2018-07-25 | PMID 30045758

Karch Celeste M, Hernández Damián, Wang Jen-Chyong and 16 more

Genes: APP, PSEN1, PSEN2

Critical role of FOXO3a in carcinogenesis.

Molecular cancer | 2018-07-25 | PMID 30045773

Liu Ying, Ao Xiang, Ding Wei and 7 more

Exploring shared genetic bases and causal relationships of schizophrenia and bipolar disorder with 28 cardiovascular and metabolic traits.

Psychological medicine | 2019-06-01 | PMID 30045777

So Hon-Cheong, Chau Kwan-Long, Ao Fu-Kiu and 2 more

Clinical correlates and heritability of cardiac mechanics: The HyperGEN study.

International journal of cardiology | 2019-01-01 | PMID 30045819

Khan Sadiya S, Kim Kwang-Youn A, Peng Jie and 10 more

Mouse Population-Based Approaches to Investigate Adverse Drug Reactions.

Drug metabolism and disposition: the biological fate of chemicals | 2018-11-01 | PMID 30045843

Mosedale Merrie

Natural Variation in the Multidrug Efflux Pump SGE1 Underlies Ionic Liquid Tolerance in Yeast.

Genetics | 2018-09-01 | PMID 30045857

Higgins Douglas A, Young Megan K M, Tremaine Mary and 14 more

Accurate Genotype Imputation in Multiparental Populations from Low-Coverage Sequence.

Genetics | 2018-09-01 | PMID 30045858

Zheng Chaozhi, Boer Martin P, van Eeuwijk Fred A

Detection of Respiratory Colonization by Kingella kingae and the Novel Kingella negevensis Species in Children: Uses and Methodology.

Journal of clinical microbiology | 2018-10-01 | PMID 30045866

Yagupsky Pablo

Human CPA1 mutation causes digestive enzyme misfolding and chronic pancreatitis in mice.

Gut | 2019-02-01 | PMID 30045879

Hegyi Eszter, Sahin-Tóth Miklós

Genes: CPA1

Loss of runx1 function results in B cell immunodeficiency but not T cell in adult zebrafish.

Open biology | 2018-07-01 | PMID 30045885

Chi Yali, Huang Zhibin, Chen Qi and 5 more

Genes: RUNX1

"NAD-capQ" detection and quantitation of NAD caps.

RNA (New York, N.Y.) | 2018-10-01 | PMID 30045887

Grudzien-Nogalska Ewa, Bird Jeremy G, Nickels Bryce E and 1 more

Tumor Mutation Burden and Efficacy of EGFR-Tyrosine Kinase Inhibitors in Patients with EGFR-Mutant Lung Cancers.

Clinical cancer research : an official journal of the American Association for Cancer Research | 2019-02-01 | PMID 30045933

Offin Michael, Rizvi Hira, Tenet Megan and 12 more

Genes: EGFR, IMPACT

Genome-scale CRISPR-Cas9 screen identifies druggable dependencies in TP53 wild-type Ewing sarcoma.

The Journal of experimental medicine | 2018-08-06 | PMID 30045945

Stolte Björn, Iniguez Amanda Balboni, Dharia Neekesh V and 12 more

Genes: USP7, MDM2, MDM4

Experimental Design, Population Dynamics, and Diversity in Microbial Experimental Evolution.

Microbiology and molecular biology reviews : MMBR | 2018-09-01 | PMID 30045954

Van den Bergh Bram, Swings Toon, Fauvart Maarten and 1 more

The multistep hypothesis of ALS revisited: The role of genetic mutations.

Neurology | 2018-08-14 | PMID 30045958

Chiò Adriano, Mazzini Letizia, D'Alfonso Sandra and 18 more

Genes: SOD1, TARDBP, FUS

An observational study of functional abilities in infants, children, and adults with type 1 SMA.

Neurology | 2018-08-21 | PMID 30045959

Pane Marika, Palermo Concetta, Messina Sonia and 15 more

Genes: SMN2

LRRK2 activation in idiopathic Parkinson's disease.

Science translational medicine | 2018-07-25 | PMID 30045977

Di Maio Roberto, Hoffman Eric K, Rocha Emily M and 12 more

Sera from Individuals with Narrowly Focused Influenza Virus Antibodies Rapidly Select Viral Escape Mutations In Ovo.

Journal of virology | 2018-10-01 | PMID 30045982

Davis Amy K F, McCormick Kevin, Gumina Megan E and 7 more

Genetic Evidence Supports Sporadic and Independent Introductions of Subtype H5 Low-Pathogenic Avian Influenza A Viruses from Wild Birds to Domestic Poultry in North America.

Journal of virology | 2018-10-01 | PMID 30045988

Li Lei, Bowman Andrew S, DeLiberto Thomas J and 9 more

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

JCI insight | 2018-07-26 | PMID 30046002

Han Sangwoo T, Rab Andras, Pellicore Matthew J and 11 more

Genes: CFTR

Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.

JCI insight | 2018-07-26 | PMID 30046003

Wong Jasmine C, Bryant Victoria, Lamprecht Tamara and 16 more

Genes: SAMD9

The RUNX1/IL-34/CSF-1R axis is an autocrinally regulated modulator of resistance to BRAF-V600E inhibition in melanoma.

JCI insight | 2018-07-26 | PMID 30046005

Giricz Orsi, Mo Yongkai, Dahlman Kimberly B and 25 more

Genes: BRAF, RUNX1

The mutational landscape of recurrent versus nonrecurrent human papillomavirus-related oropharyngeal cancer.

JCI insight | 2018-07-26 | PMID 30046007

Harbison R Alex, Kubik Mark, Konnick Eric Q and 10 more

Genes: AJUBA, BRIP1, CASP8, FAT1, KMT2D, NBN, NFE2L2, NSD1

Exogenous LRRK2G2019S induces parkinsonian-like pathology in a nonhuman primate.

JCI insight | 2018-07-26 | PMID 30046008

Mestre-Francés Nadine, Serratrice Nicolas, Gennetier Aurélie and 15 more

Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.

JCI insight | 2018-07-26 | PMID 30046013

Kondo Yuji, Fu Jianxin, Wang Hua and 21 more

Genes: MBTPS1

Unperturbed expression bias of imprinted genes in schizophrenia.

Nature communications | 2018-07-25 | PMID 30046039

Gulyás-Kovács Attila, Keydar Ifat, Xia Eva and 5 more

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Journal of human genetics | 2018-10-01 | PMID 30046096

Jaouadi Hager, Kraoua Lilia, Chaker Lilia and 7 more

Genes: ALPK3

Differential regulation of the Wnt/β-catenin pathway by hepatitis C virus recombinants expressing core from various genotypes.

Scientific reports | 2018-07-25 | PMID 30046100

Aicher Stephanie, Kakkanas Athanasios, Cohen Lisette and 6 more

53BP1 cooperation with the REV7-shieldin complex underpins DNA structure-specific NHEJ.

Nature | 2018-08-01 | PMID 30046110

Ghezraoui Hind, Oliveira Catarina, Becker Jordan R and 13 more

Genes: SHLD1, SHLD2, SHLD3

Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Nature | 2018-08-01 | PMID 30046113

Dhir Ashish, Dhir Somdutta, Borowski Lukasz S and 15 more

Genes: PNPT1

Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks.

Nature communications | 2018-07-25 | PMID 30046115

Pelikan Richard C, Kelly Jennifer A, Fu Yao and 11 more

A Novel Approach for Predicting Disease-lncRNA Associations Based on the Distance Correlation Set and Information of the miRNAs.

Computational and mathematical methods in medicine | 2018-01-01 | PMID 30046354

Zhao Haochen, Kuang Linai, Wang Lei and 1 more

Association between the Hypertriglyceridemic Waist Phenotype and Prediabetes in Chinese Adults Aged 40 Years and Older.

Journal of diabetes research | 2018-01-01 | PMID 30046615

Zhao Kun, Yang Shan-Shan, Wang Hai-Bin and 3 more

A dedicated glyceraldehyde-3-phosphate dehydrogenase is involved in the biosynthesis of volatile sesquiterpenes in Trichoderma virens-evidence for the role of a fungal GAPDH in secondary metabolism.

Current genetics | 2019-02-01 | PMID 30046843

Pachauri Shikha, Chatterjee Suchandra, Kumar Vinay and 1 more

Genes: GAPDH

[H3F3A mutated multicentric giant cell tumor of bone : A very rare primary bone disease].

Der Pathologe | 2018-09-01 | PMID 30046846

Giesche J P, von Baer A, Breining T and 6 more