New Variant of mcr-3 in an Extensively Drug-Resistant Escherichia coli Clinical Isolate Carrying mcr-1 and blaNDM-5.
Antimicrobial agents and chemotherapy | 2017-12-01 | PMID 28971871
Liu Lu, Feng Yu, Zhang Xiaoxia 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 7510 of 10600
Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients.
Haematologica | 2017-12-01 | PMID 28971901
Borràs Nina, Batlle Javier, Pérez-Rodríguez Almudena and 46 more
Genes: VWF
Mixed phenotype acute leukemia: outcomes with allogeneic stem cell transplantation. A retrospective study from the Acute Leukemia Working Party of the EBMT.
Haematologica | 2017-12-01 | PMID 28971902
Munker Reinhold, Labopin Myriam, Esteve Jordi and 3 more
Favorable impact of allogeneic stem cell transplantation in patients with therapy-related myelodysplasia regardless of TP53 mutational status.
Haematologica | 2017-12-01 | PMID 28971906
Aldoss Ibrahim, Pham Anh, Li Sierra Min and 26 more
Genes: ASXL1, ETV6, RUNX1
Rapamycin and CHIR99021 Coordinate Robust Cardiomyocyte Differentiation From Human Pluripotent Stem Cells Via Reducing p53-Dependent Apoptosis.
Journal of the American Heart Association | 2017-10-02 | PMID 28971953
Qiu Xiao-Xu, Liu Yang, Zhang Yi-Fan and 10 more
Reciprocal Genetics: Identifying QTL for General and Specific Combining Abilities in Hybrids Between Multiparental Populations from Two Maize (Zea mays L.) Heterotic Groups.
Genetics | 2017-11-01 | PMID 28971957
Giraud Héloïse, Bauland Cyril, Falque Matthieu and 10 more
Genes: GCA
Mutation Rate Evolution in Partially Selfing and Partially Asexual Organisms.
Genetics | 2017-12-01 | PMID 28971958
Gervais Camille, Roze Denis
Testing Genetic Pleiotropy with GWAS Summary Statistics for Marginal and Conditional Analyses.
Genetics | 2017-12-01 | PMID 28971959
Deng Yangqing, Pan Wei
A Genetic Screen for Pre-mRNA Splicing Mutants of Arabidopsis thaliana Identifies Putative U1 snRNP Components RBM25 and PRP39a.
Genetics | 2017-12-01 | PMID 28971960
Kanno Tatsuo, Lin Wen-Dar, Fu Jason L and 3 more
Genes: RBM25
Integument Development in Arabidopsis Depends on Interaction of YABBY Protein INNER NO OUTER with Coactivators and Corepressors.
Genetics | 2017-12-01 | PMID 28971961
Simon Marissa K, Skinner Debra J, Gallagher Thomas L and 1 more
A single mutation in the prM protein of Zika virus contributes to fetal microcephaly.
Science (New York, N.Y.) | 2017-11-17 | PMID 28971967
Yuan Ling, Huang Xing-Yao, Liu Zhong-Yu and 20 more
Southern African ancient genomes estimate modern human divergence to 350,000 to 260,000 years ago.
Science (New York, N.Y.) | 2017-11-03 | PMID 28971970
Schlebusch Carina M, Malmström Helena, Günther Torsten and 9 more
Kringle IV Type 2, Not Low Lipoprotein(a), as a Cause of Diabetes: A Novel Genetic Approach Using SNPs Associated Selectively with Lipoprotein(a) Concentrations or with Kringle IV Type 2 Repeats.
Clinical chemistry | 2017-12-01 | PMID 28971985
Tolbus Andra, Mortensen Martin B, Nielsen Sune F and 3 more
Genes: LPA
Genetic Testing in a Population-Based Sample of Breast and Ovarian Cancer Survivors from the REACH Randomized Trial: Cost Barriers and Moderators of Counseling Mode.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology | 2017-12-01 | PMID 28971986
Steffen Laurie E, Du Ruofei, Gammon Amanda and 10 more
Genes: BRCA1
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Circulation | 2017-11-21 | PMID 28972005
Hadinnapola Charaka, Bleda Marta, Haimel Matthias and 40 more
Genes: PAH, BMPR2
Thyroid hormone regulates hematopoiesis via the TR-KLF9 axis.
Blood | 2017-11-16 | PMID 28972010
Zhang Ying, Xue Yuanyuan, Cao Chunwei and 23 more
Genes: KLF9, DUOX2
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.
Blood | 2017-11-23 | PMID 28972011
Rao V Koneti, Webster Sharon, Dalm Virgil A S H and 20 more
Genes: CXCL10, CXCL13
Genetic Dissection of DivIVA Functions in Listeria monocytogenes.
Journal of bacteriology | 2017-12-15 | PMID 28972021
Kaval Karan Gautam, Hauf Samuel, Rismondo Jeanine and 2 more
Gordon Holmes syndrome: finally genotype meets phenotype.
Practical neurology | 2017-12-01 | PMID 28972031
Mehmood Shahid, Hoggard Nigel, Hadjivassiliou Marios
Diverse phenotype of hypokalaemic periodic paralysis within a family.
Practical neurology | 2018-02-01 | PMID 28972032
Chalissery Albi Jose, Munteanu Tudor, Langan Yvonne and 2 more
Downregulation of DNMT3A by miR-708-5p Inhibits Lung Cancer Stem Cell-like Phenotypes through Repressing Wnt/β-catenin Signaling.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2018-04-01 | PMID 28972040
Liu Tianchi, Wu Xiaoping, Chen Tong and 2 more
Genes: CDH1
Neuroblastoma Patients' KIR and KIR-Ligand Genotypes Influence Clinical Outcome for Dinutuximab-based Immunotherapy: A Report from the Children's Oncology Group.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2018-01-01 | PMID 28972044
Erbe Amy K, Wang Wei, Carmichael Lakeesha and 20 more
Genes: EFS
Pharmacogenetic Analysis of the UK MRC (Medical Research Council) MAGIC Trial: Association of Polymorphisms with Toxicity and Survival in Patients Treated with Perioperative Epirubicin, Cisplatin, and 5-fluorouracil (ECF) Chemotherapy.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2017-12-15 | PMID 28972045
Smyth Elizabeth, Zhang Shenli, Cunningham David and 12 more
Genes: GSTT1, ERCC1, ERCC2, GSTP1, TYMS, XRCC1
Clonality, Heterogeneity, and Evolution of Synchronous Bilateral Ovarian Cancer.
Cancer research | 2017-12-01 | PMID 28972072
Yin Xia, Jing Ying, Cai Mei-Chun and 6 more
Multiregional Sequencing Reveals Genomic Alterations and Clonal Dynamics in Primary Malignant Melanoma of the Esophagus.
Cancer research | 2018-01-15 | PMID 28972077
Li Jingjing, Yan Shi, Liu Zhen and 10 more
Genes: JAK1, ARHGAP26, BRAF, KRAS, PTEN
Hypermutated Circulating Tumor DNA: Correlation with Response to Checkpoint Inhibitor-Based Immunotherapy.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2017-10-01 | PMID 28972084
Khagi Yulian, Goodman Aaron M, Daniels Gregory A and 5 more
Postsynaptic adhesion GPCR latrophilin-2 mediates target recognition in entorhinal-hippocampal synapse assembly.
The Journal of cell biology | 2017-11-06 | PMID 28972101
Anderson Garret R, Maxeiner Stephan, Sando Richard and 3 more
Vulnerability of DHCR7+/- mutation carriers to aripiprazole and trazodone exposure.
Journal of lipid research | 2017-11-01 | PMID 28972118
Korade Zeljka, Genaro-Mattos Thiago C, Tallman Keri A and 6 more
Genes: DHCR7
Loss of fatty acid binding protein-1 alters the hepatic endocannabinoid system response to a high-fat diet.
Journal of lipid research | 2017-11-01 | PMID 28972119
Martin Gregory G, Landrock Danilo, Chung Sarah and 5 more
Genes: FABP1
A Multilevel Functional Study of a SNAP25 At-Risk Variant for Bipolar Disorder and Schizophrenia.
The Journal of neuroscience : the official journal of the Society for Neuroscience | 2017-10-25 | PMID 28972123
Houenou Josselin, Boisgontier Jennifer, Henrion Annabelle and 17 more
Genes: SNAP25
A conserved energetic footprint underpins recognition of human leukocyte antigen-E by two distinct αβ T cell receptors.
The Journal of biological chemistry | 2017-12-22 | PMID 28972140
Sullivan Lucy C, Walpole Nicholas G, Farenc Carine and 11 more
Pharmacochaperoning in a Drosophila model system rescues human dopamine transporter variants associated with infantile/juvenile parkinsonism.
The Journal of biological chemistry | 2017-11-24 | PMID 28972153
Asjad H M Mazhar, Kasture Ameya, El-Kasaby Ali and 4 more
Structural insights into GDP-mediated regulation of a bacterial acyl-CoA thioesterase.
The Journal of biological chemistry | 2017-12-15 | PMID 28972175
Khandokar Yogesh B, Srivastava Parul, Cowieson Nathan and 6 more
Genes: ACOT12
Post-translational modifications clustering within proteolytic domains decrease mutant huntingtin toxicity.
The Journal of biological chemistry | 2017-11-24 | PMID 28972180
Arbez Nicolas, Ratovitski Tamara, Roby Elaine and 6 more
Mutual synergy between catalase and peroxidase activities of the bifunctional enzyme KatG is facilitated by electron hole-hopping within the enzyme.
The Journal of biological chemistry | 2017-11-10 | PMID 28972181
Njuma Olive J, Davis Ian, Ndontsa Elizabeth N and 3 more
Urokinase-type plasminogen activator (uPA) is critical for progression of tuberous sclerosis complex 2 (TSC2)-deficient tumors.
The Journal of biological chemistry | 2017-12-15 | PMID 28972182
Stepanova Victoria, Dergilev Konstantin V, Holman Kelci R and 11 more
Genes: TSC2, TSC1
The lipopolysaccharide core oligosaccharide of Burkholderia plays a critical role in maintaining a proper gut symbiosis with the bean bug Riptortus pedestris.
The Journal of biological chemistry | 2017-11-24 | PMID 28972189
Kim Jiyeun Kate, Jang Ho Am, Kim Min Seon and 7 more
Malectin gene polymorphisms promote cerebral palsy via M2-like macrophage polarization.
Clinical genetics | 2018-04-01 | PMID 28972276
Shi W, Zhu Y, Zhou M and 3 more
Genes: MLEC
Axenfeld-Rieger syndrome.
Clinical genetics | 2018-06-01 | PMID 28972279
Seifi M, Walter M A
Genes: FOXC1, PITX2
Genetic variation in the progesterone receptor gene and susceptibility to recurrent pregnancy loss: a case-control study.
BJOG : an international journal of obstetrics and gynaecology | 2018-05-01 | PMID 28972310
Bahia W, Finan R R, Al-Mutawa M and 5 more
Genes: PGR
Application of massively parallel sequencing (MPS) in paternity testing - case report.
Archiwum medycyny sadowej i kryminologii | 2000-01-01 | PMID 28972359
Kostrzewa Grażyna, Konarzewska Magdalena, Pepiński Witold
Association Between Clusterin Gene Polymorphisms and Epilepsy in a Han Chinese Population.
Genetic testing and molecular biomarkers | 2017-11-01 | PMID 28972394
Xian Wenchuan, Tao Hua, Zhao Jianghao and 6 more
Genes: CLU
ANGPTL3 serum concentration and rare genetic variants in Finnish population.
Scandinavian journal of clinical and laboratory investigation | 2017-12-01 | PMID 28972399
Tikka Anna, Metso Jari, Jauhiainen Matti
Genes: ANGPTL3, CETP, PLTP
Detection of different genotypes of infectious bronchitis virus and of infectious bursal disease virus in European broilers during an epidemiological study in 2013 and the consequences for the diagnostic approach.
Avian pathology : journal of the W.V.P.A | 2018-04-01 | PMID 28972403
de Wit J J, Cazaban C, Dijkman R and 2 more
Autoimmune manifestations associated with lymphoma: characteristics and outcome in a multicenter retrospective cohort study.
Leukemia & lymphoma | 2018-06-01 | PMID 28972423
Jachiet Vincent, Mekinian Arsène, Carrat Fabrice and 14 more
Impaired eye contact in the FMR1 premutation is not associated with social anxiety or the broad autism phenotype.
The Clinical neuropsychologist | 2000-01-01 | PMID 28972453
Klusek Jessica, Ruber Alexis, Roberts Jane E
Genes: FMR1
Prevalence and genetic diversity of Trichomonas vaginalis in the general population of Granada and co-infections with Gardnerella vaginalis and Candida species.
Journal of medical microbiology | 2017-10-01 | PMID 28972465
Carrillo-Ávila José Antonio, Serrano-García María Luisa, Fernández-Parra Jorge and 4 more
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
The Journal of clinical investigation | 2017-11-01 | PMID 28972538
Carapito Raphael, Konantz Martina, Paillard Catherine and 47 more
Genes: SRP54, SDS, SBDS
Tigecycline Resistant Klebsiella pneumoniae Isolated from Austrian River Water.
International journal of environmental research and public health | 2017-10-03 | PMID 28972552
Hladicz Alexander, Kittinger Clemens, Zarfel Gernot
Individual-level trait diversity predicts phytoplankton community properties better than species richness or evenness.
The ISME journal | 2018-02-01 | PMID 28972571
Fontana Simone, Thomas Mridul Kanianthara, Moldoveanu Mirela and 2 more
Genome-wide association study across European and African American ancestries identifies a SNP in DNMT3B contributing to nicotine dependence.
Molecular psychiatry | 2018-09-01 | PMID 28972577
Hancock D B, Guo Y, Reginsson G W and 35 more
Genes: CHRNA3, CHRNA5, CHRNB4
RAS pathway mutations as a predictive biomarker for treatment adaptation in pediatric B-cell precursor acute lymphoblastic leukemia.
Leukemia | 2018-04-01 | PMID 28972594
Jerchel I S, Hoogkamer A Q, Ariës I M and 14 more
Genes: ABL1, BCR, ETV6, PBX1, RUNX1, TCF3
Structural Basis of Single-Nucleotide Polymorphisms in Cytochrome P450 2C9.
Biochemistry | 2017-10-17 | PMID 28972767
Maekawa Keiko, Adachi Motoyasu, Matsuzawa Yumiko and 4 more
Schwann Cell Phenotype Changes in Aging Human Dental Pulp.
Journal of dental research | 2018-03-01 | PMID 28972819
Couve E, Lovera M, Suzuki K and 1 more
Genes: GAP43, MBP, GFAP
Inhibition of TGF-β Signaling in SHED Enhances Endothelial Differentiation.
Journal of dental research | 2018-02-01 | PMID 28972822
Xu J G, Gong T, Wang Y Y and 4 more
Genes: SMAD2
Persistent Genetic and Family-Wide Environmental Contributions to Early Number Knowledge and Later Achievement in Mathematics.
Psychological science | 2017-12-01 | PMID 28972824
Garon-Carrier Gabrielle, Boivin Michel, Kovas Yulia and 6 more
Diversity of Class 1 Integrons, and Disruption of carO and dacD by Insertion Sequences Among Acinetobacter baumannii Isolates in Tehran, Iran.
Microbial drug resistance (Larchmont, N.Y.) | 2018-05-01 | PMID 28972863
Mirshekar Maryam, Shahcheraghi Fereshteh, Azizi Omid and 2 more
Molecular profiling of liver cancer heterogeneity.
Discovery medicine | 2017-09-01 | PMID 28972880
Craig Amanda J, von Felden Johann, Villanueva Augusto
Owl monkey CCR5 reveals synergism between CD4 and CCR5 in HIV-1 entry.
Virology | 2017-12-01 | PMID 28972927
Nahabedian John, Sharma Amit, Kaczmarek Maryska E and 3 more
Genes: CCR5
Phylogenetic Analysis of Torque Teno Virus in Thalassemic Children in Egypt.
Intervirology | 2017-01-01 | PMID 28972950
Hassuna Noha A, Naguib Eman, Abdel-Fatah Medhat and 1 more
Clinical significance of BRAF non-V600E mutations on the therapeutic effects of anti-EGFR monoclonal antibody treatment in patients with pretreated metastatic colorectal cancer: the Biomarker Research for anti-EGFR monoclonal Antibodies by Comprehensive Cancer genomics (BREAC) study.
British journal of cancer | 2017-11-07 | PMID 28972961
Shinozaki Eiji, Yoshino Takayuki, Yamazaki Kentaro and 22 more
Genes: EGFR, BRAF, KRAS, NRAS
EWET: Data collection and interface for the genetic analysis of Echinococcus multilocularis based on EmsB microsatellite.
PloS one | 2017-01-01 | PMID 28972978
Knapp Jenny, Damy Sylvie, Brillaud Jonathan and 11 more
Local selection in the presence of high levels of gene flow: Evidence of heterogeneous insecticide selection pressure across Ugandan Culex quinquefasciatus populations.
PLoS neglected tropical diseases | 2017-10-01 | PMID 28972985
Silva Martins Walter Fabricio, Wilding Craig Stephen, Steen Keith and 3 more
Genes: DDT, FST
Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma.
PloS one | 2017-01-01 | PMID 28973033
Hulur Imge, Skol Andrew D, Gamazon Eric R and 2 more
OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.
PloS one | 2017-01-01 | PMID 28973042
Caduff Madleina, Bauer Anina, Jagannathan Vidhya and 1 more
Genes: OCA2
Genetic Causes of Functional Adrenocortical Adenomas.
Endocrine reviews | 2017-12-01 | PMID 28973103
Zennaro Maria-Christina, Boulkroun Sheerazed, Fernandes-Rosa Fabio
Genes: PRKACA
A constitutive BCL2 down-regulation aggravates the phenotype of PKD1-mutant-induced polycystic kidney disease.
Human molecular genetics | 2017-12-01 | PMID 28973148
Duplomb Laurence, Droin Nathalie, Bouchot Olivier and 12 more
Genes: BCL2, PKD1
Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome.
Human molecular genetics | 2017-12-01 | PMID 28973153
Siegmund Stephanie E, Yang Hua, Sharma Rohit and 5 more
High-throughput screening uncovers miRNAs enhancing glioblastoma cell susceptibility to tyrosine kinase inhibitors.
Human molecular genetics | 2017-11-15 | PMID 28973155
Cunha Pedro P, Costa Pedro M, Morais Catarina M and 6 more
Genes: AKT1, SOS1
A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency.
Human molecular genetics | 2017-11-15 | PMID 28973165
Caine Charlotte, Shohat Meytal, Kim Jeong-Ki and 4 more
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Human molecular genetics | 2017-11-01 | PMID 28973171
Garone Caterina, D'Souza Aaron R, Dallabona Cristina and 13 more
Genes: MRM2
Amyotrophic lateral sclerosis-associated mutant SOD1 inhibits anterograde axonal transport of mitochondria by reducing Miro1 levels.
Human molecular genetics | 2017-12-01 | PMID 28973175
Moller Annekathrin, Bauer Claudia S, Cohen Rebecca N and 2 more
Genes: SOD1, PINK1, PTEN
Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.
Human molecular genetics | 2017-11-15 | PMID 28973288
Giri Dinesh, Vignola Maria Lillina, Gualtieri Angelica and 6 more
Genes: FOXA2
Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis.
Human molecular genetics | 2017-11-01 | PMID 28973294
Tibshirani Michael, Zhao Beibei, Gentil Benoit J and 8 more
Genes: FUS
Pseudoexfoliation and Alzheimer's associated CLU risk variant, rs2279590, lies within an enhancer element and regulates CLU, EPHX2 and PTK2B gene expression.
Human molecular genetics | 2017-11-15 | PMID 28973302
Padhy Biswajit, Hayat Bushra, Nanda Gargi Gouranga and 2 more
Genes: CLU, EPHX2, HSF1
FBN1 mutations largely contribute to sporadic non-syndromic aortic dissection.
Human molecular genetics | 2017-12-15 | PMID 28973303
Tan Lun, Li Zongze, Zhou Chengming and 6 more
Genes: FBN1
Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.
Human molecular genetics | 2017-11-01 | PMID 28973304
Dand Nick, Mucha Sören, Tsoi Lam C and 51 more
Genes: IFIH1, TYK2, TNFSF15
Modeling prior information of common genetic variants improves gene discovery for neuroticism.
Human molecular genetics | 2017-11-15 | PMID 28973307
Lo Min-Tzu, Wang Yunpeng, Kauppi Karolina and 10 more
Genes: CADM2
Emergence of Novel Human Norovirus GII.17 Strains Correlates With Changes in Blockade Antibody Epitopes.
The Journal of infectious diseases | 2017-12-05 | PMID 28973354
Lindesmith Lisa C, Kocher Jacob F, Donaldson Eric F and 5 more
SETD6 dominant negative mutation in familial colorectal cancer type X.
Human molecular genetics | 2017-11-15 | PMID 28973356
Martín-Morales Lorena, Feldman Michal, Vershinin Zlata and 3 more
Genes: SETD6
An Extracellular Polysaccharide Locus Required for Transmission of Bordetella bronchiseptica.
The Journal of infectious diseases | 2017-10-17 | PMID 28973366
Dewan Kalyan K, Taylor-Mulneix Dawn L, Hilburger Lindsay J and 3 more
The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6.
Human molecular genetics | 2017-11-15 | PMID 28973376
Sacristan-Reviriego Almudena, Bellingham James, Prodromou Chrisostomos and 6 more
Genes: AIPL1, TPR
Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.
Human molecular genetics | 2017-11-01 | PMID 28973381
Walker-Kopp Nancy, Jackobel Ashleigh J, Pannafino Gianno N and 3 more
Genes: TCOF1
Characterization of breakpoint regions of large structural autosomal mosaic events.
Human molecular genetics | 2017-11-15 | PMID 28973384
Machiela Mitchell J, Jessop Lea, Zhou Weiyin and 2 more
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Human molecular genetics | 2017-11-15 | PMID 28973395
Curiel Julian, Rodríguez Bey Guillermo, Takanohashi Asako and 13 more
Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity.
Human molecular genetics | 2017-12-01 | PMID 28973398
Katrancha Sara M, Wu Yi, Zhu Minsheng and 3 more
Genes: TRIO
Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue.
Human molecular genetics | 2017-12-01 | PMID 28973399
Theil Arjan F, Mandemaker Imke K, van den Akker Emile and 14 more
Genes: NPS
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Human molecular genetics | 2017-12-01 | PMID 28973407
Palencia-Campos Adrian, Ullah Asmat, Nevado Julian and 15 more
Genes: GLI1, GLI2, GLI3, PTCH1
Fatal Carney Complex in Siblings Due to De Novo Large Gene Deletion.
The Journal of clinical endocrinology and metabolism | 2017-11-01 | PMID 28973408
Stelmachowska-Banas Maria, Zgliczynski Wojciech, Tutka Piotr and 2 more
Aryl Hydrocarbon Receptor Ablation in Cardiomyocytes Protects Male Mice From Heart Dysfunction Induced by NKX2.5 Haploinsufficiency.
Toxicological sciences : an official journal of the Society of Toxicology | 2017-11-01 | PMID 28973413
Wang Qin, Fan Yunxia, Kurita Hisaka and 5 more
Genes: AHR
Interplay between PTB and miR-1285 at the p53 3'UTR modulates the levels of p53 and its isoform Δ40p53α.
Nucleic acids research | 2017-09-29 | PMID 28973454
Katoch Aanchal, George Biju, Iyyappan Amrutha and 2 more
The structure of transcription termination factor Nrd1 reveals an original mode for GUAA recognition.
Nucleic acids research | 2017-09-29 | PMID 28973465
Franco-Echevarría Elsa, González-Polo Noelia, Zorrilla Silvia and 7 more
A transcription network of interlocking positive feedback loops maintains intracellular iron balance in archaea.
Nucleic acids research | 2017-09-29 | PMID 28973467
Martinez-Pastor Mar, Lancaster W Andrew, Tonner Peter D and 2 more
Genetic Structure of the Aphis craccivora (Hemiptera: Aphididae) From Thailand Inferred From Mitochondrial COI Gene Sequence.
Journal of insect science (Online) | 2017-07-01 | PMID 28973491
Wongsa Kanyanat, Duangphakdee Orawan, Rattanawannee Atsalek
Genes: FST
Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.
Human molecular genetics | 2017-11-01 | PMID 28973513
Sagie Shira, Edni Omer, Weinberg Joseph and 6 more
From the Cover: Genomic Effects of Androstenedione and Sex-Specific Liver Cancer Susceptibility in Mice.
Toxicological sciences : an official journal of the Society of Toxicology | 2017-11-01 | PMID 28973534
Rooney John P, Ryan Natalia, Chorley Brian N and 13 more
Heterozygous loss of TSC2 alters p53 signaling and human stem cell reprogramming.
Human molecular genetics | 2017-12-01 | PMID 28973543
Armstrong Laura C, Westlake Grant, Snow John P and 4 more
Genes: TSC2, TSC1
Loss of the imprinted, non-coding Snord116 gene cluster in the interval deleted in the Prader Willi syndrome results in murine neuronal and endocrine pancreatic developmental phenotypes.
Human molecular genetics | 2017-12-01 | PMID 28973544
Burnett Lisa Cole, Hubner Gabriela, LeDuc Charles A and 3 more
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.
Human molecular genetics | 2017-12-01 | PMID 28973549
Srivastava Shalabh, Ramsbottom Simon A, Molinari Elisa and 7 more
Editor's Highlight: Clofibrate Decreases Bile Acids in Livers of Male Mice by Increasing Biliary Bile Acid Excretion in a PPARα-Dependent Manner.
Toxicological sciences : an official journal of the Society of Toxicology | 2017-12-01 | PMID 28973556
Zhang Youcai, Lickteig Andrew J, Csanaky Iván L and 1 more