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 7559 of 10600

Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.
The journal of allergy and clinical immunology. In practice | 2000-01-01 | PMID 29128335
Veronez Camila Lopes, Moreno Adriana S, Constantino-Silva Rosemeire Navickas and 18 more
rs6923761 gene variant in glucagon-like peptide 1 receptor: Allelic frequencies and influence on cardiovascular risk factors in a multicenter study of Castilla-Leon.
Clinical nutrition (Edinburgh, Scotland) | 2018-12-01 | PMID 29128339
de Luis D A, Ballesteros M, Lopez Guzman A and 7 more
Genes: CRP
The interaction between a HSP-70 gene variant with dietary calories in determining serum markers of inflammation and cardiovascular risk.
Clinical nutrition (Edinburgh, Scotland) | 2018-12-01 | PMID 29128340
Mehramiz Mehrane, Hassanian Seyed Mahdi, Mardan-Nik Maryam and 11 more
Genes: CRP
Drosophila models of FOP provide mechanistic insight.
Bone | 2018-04-01 | PMID 29128351
Le Viet, Anderson Edward, Akiyama Takuya and 1 more
Genes: ACVR1
Replacement of oxidizable residues predicted by QM-MM simulation of a fungal laccase generates variants with higher operational stability.
Journal of inorganic biochemistry | 2018-01-01 | PMID 29128497
Avelar Mayra, Pastor Nina, Ramirez-Ramirez Joaquin and 1 more
Verification of genetic loci responsible for the resistance/susceptibility to the Sendai virus infection using congenic mice.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-01-01 | PMID 29128518
Abbas Raghda Mohamed Fathi, Torigoe Daisuke, Kameda Yayoi and 4 more
Genes: TNF
Genetic structure of two erythrocyte binding antigens of Plasmodium falciparum reveals a contrasting pattern of selection.
Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-01-01 | PMID 29128519
Chowdhury Pramita, Sen Srikanta, Kanjilal Sumana Datta and 1 more
Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.
American journal of obstetrics and gynecology | 2018-02-01 | PMID 29128521
Wang Yan, Cao Li, Liang Dong and 14 more
Endogenously generated DNA nucleobase modifications source, and significance as possible biomarkers of malignant transformation risk, and role in anticancer therapy.
Biochimica et biophysica acta. Reviews on cancer | 2018-01-01 | PMID 29128527
Olinski Ryszard, Gackowski Daniel, Cooke Marcus S
A 1204-single nucleotide polymorphism and insertion-deletion polymorphism panel for massively parallel sequencing analysis of DNA mixtures.
Forensic science international. Genetics | 2018-01-01 | PMID 29128546
Hwa Hsiao-Lin, Chung Wan-Chia, Chen Pei-Lung and 4 more
Transplant Decisions in Patients with Myelofibrosis: Should Mutations Be the Judge?
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation | 2018-04-01 | PMID 29128551
Salit Rachel B, Deeg H Joachim
Genes: ASXL1, CALR, JAK2, SRSF2, IDH1, MPL
Restoration of polr1c in Early Embryogenesis Rescues the Type 3 Treacher Collins Syndrome Facial Malformation Phenotype in Zebrafish.
The American journal of pathology | 2018-02-01 | PMID 29128566
Kwong Ernest Man Lok, Ho Jeff Cheuk Hin, Lau Marco Chi Chung and 3 more
Colorectal Cancer Disparity in African Americans: Risk Factors and Carcinogenic Mechanisms.
The American journal of pathology | 2018-02-01 | PMID 29128568
Augustus Gaius J, Ellis Nathan A
Association analysis of SNP rs11868035 in SREBF1 with sporadic Parkinson's disease, sporadic amyotrophic lateral sclerosis and multiple system atrophy in a Chinese population.
Neuroscience letters | 2018-01-18 | PMID 29128630
Yuan XiaoQin, Cao Bei, Wu Ying and 8 more
Genes: MAF
Vitamin D receptor (VDR) polymorphisms are associated to spontaneous preterm birth and maternal aspects.
Gene | 2018-02-05 | PMID 29128634
Javorski N, Lima C A D, Silva L V C and 2 more
Genes: SPTB, VDR
HIV drug resistance following a decade of the free antiretroviral therapy programme in India: A review.
International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases | 2018-01-01 | PMID 29128646
Karade Santosh, Chaturbhuj Devidas N, Sen Sourav and 4 more
Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation.
The Journal of allergy and clinical immunology | 2018-06-01 | PMID 29128673
Bigley Venetia, Maisuria Sheetal, Cytlak Urszula and 20 more
Genes: BATF, CXCR3, JUN
Insights from structures of cancer-relevant pre-mRNA splicing factors.
Current opinion in genetics & development | 2018-02-01 | PMID 29128695
Kielkopf Clara L
Development and characterization of a human monoclonal antibody targeting the N-terminal region of hepatitis C virus envelope glycoprotein E1.
Virology | 2018-01-15 | PMID 29128754
Mesalam Ahmed Atef, Desombere Isabelle, Farhoudi Ali and 9 more
Wheat streak mosaic virus coat protein is a determinant for vector transmission by the wheat curl mite.
Virology | 2018-01-15 | PMID 29128755
Tatineni Satyanarayana, McMechan Anthony J, Hein Gary L
Generation of induced pluripotent stem cell line (ZZUi005-A) from a 21-year-old patient with a novel RAB39B gene mutation in X-linked juvenile parkinsonism.
Stem cell research | 2017-12-01 | PMID 29128816
Wang Yanlin, Sun Huifang, Wang Zhilei and 8 more
Generation of induced pluripotent stem cell (iPSC) line from a 21-year-old X-linked adrenoleukodystrophy (X-ALD) patient.
Stem cell research | 2017-12-01 | PMID 29128817
You Young Rang, Son Daryeon, Kang Phil Jun and 2 more
Genes: ABCD1
Association of of Atrial Fibrillation Clinical Phenotypes With Treatment Patterns and Outcomes: A Multicenter Registry Study.
JAMA cardiology | 2018-01-01 | PMID 29128866
Inohara Taku, Shrader Peter, Pieper Karen and 15 more
Association of LPA Variants With Aortic Stenosis: A Large-Scale Study Using Diagnostic and Procedural Codes From Electronic Health Records.
JAMA cardiology | 2018-01-01 | PMID 29128868
Chen Hao Yu, Dufresne Line, Burr Hannah and 8 more
Genes: LPA
Evaluation of the genetic variability found in Brazilian commercial vaccines for infectious bronchitis virus.
Virus genes | 2018-02-01 | PMID 29128885
Saraiva Giuliana Loreto, Santos Marcus Rebouças, Pereira Claiton Gonçalves and 7 more
Overexpression of 5-Lipoxygenase Worsens the Phenotype of a Mouse Model of Tauopathy.
Molecular neurobiology | 2018-07-01 | PMID 29128902
Giannopoulos Phillip F, Praticò Domenico
Cardiometabolic Risk in PCOS: More than a Reproductive Disorder.
Current diabetes reports | 2017-11-11 | PMID 29128916
Torchen Laura C
Actionable secondary findings from whole-genome sequencing of 954 East Asians.
Human genetics | 2018-01-01 | PMID 29128982
Tang Clara Sze-Man, Dattani Saloni, So Man-Ting and 4 more
IRAK2 is associated with susceptibility to rheumatoid arthritis.
Clinical rheumatology | 2018-04-01 | PMID 29129009
Hassine Hana Ben, Sghiri Rim, Chabchoub Elyes and 9 more
Genes: IRAK2
Effects of helix and fingertip mutations on the thermostability of xyn11A investigated by molecular dynamics simulations and enzyme activity assays.
Journal of biomolecular structure & dynamics | 2018-11-01 | PMID 29129140
Sutthibutpong Thana, Rattanarojpong Triwit, Khunrae Pongsak
A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.
Journal of child neurology | 2017-12-01 | PMID 29129156
Dhamija Radhika, Goodkin Howard P, Bailey Russell and 2 more
Genes: KCNQ2
NAADP-evoked Ca2+ signals through two-pore channel-1 require arginine residues in the first S4-S5 linker.
Cell calcium | 2017-12-01 | PMID 29129203
Patel Sandip, Churamani Dev, Brailoiu Eugen
T and B cell activation profiles from cows with and without Johne's disease in response to in vitro stimulation with Mycobacterium avium subspecies paratuberculosis.
Veterinary immunology and immunopathology | 2017-12-01 | PMID 29129227
Frie Meredith C, Sporer Kelly R B, Kirkpatrick Brian W and 1 more
The phenotype of peritoneal mouse macrophages depends on the mitochondria and ATP/ADP homeostasis.
Cellular immunology | 2018-02-01 | PMID 29129293
Chen Wei, Sandoval Hector, Kubiak Jacek Z and 3 more
Future Directions in Eosinophilic Esophagitis.
Gastrointestinal endoscopy clinics of North America | 2018-01-01 | PMID 29129295
Hirano Ikuo
Functional Consequences of CHRNA7 Copy-Number Alterations in Induced Pluripotent Stem Cells and Neural Progenitor Cells.
American journal of human genetics | 2017-12-07 | PMID 29129316
Gillentine Madelyn A, Yin Jiani, Bajic Aleksandar and 4 more
Genes: CHRNA7
The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.
American journal of human genetics | 2017-12-07 | PMID 29129317
Laso-Jadart Romuald, Harmant Christine, Quach Hélène and 6 more
Does Childhood Trauma Moderate Polygenic Risk for Depression? A Meta-analysis of 5765 Subjects From the Psychiatric Genomics Consortium.
Biological psychiatry | 2018-07-15 | PMID 29129318
Peyrot Wouter J, Van der Auwera Sandra, Milaneschi Yuri and 25 more
A metagenomic approach to dissect the genetic composition of enterotypes in Han Chinese and two Muslim groups.
Systematic and applied microbiology | 2018-01-01 | PMID 29129355
Li Jing, Fu Ruiqing, Yang Yajun and 11 more
Genes: LYPLAL1
Multilocus sequence analysis of homologous recombination and diversity in Arthrobacter sensu lato named species and glacier-inhabiting strains.
Systematic and applied microbiology | 2018-01-01 | PMID 29129356
Liu Qing, Xin Yu-Hua, Zhou Yu-Guang and 1 more
Deletion of claudin-10 rescues claudin-16-deficient mice from hypomagnesemia and hypercalciuria.
Kidney international | 2018-03-01 | PMID 29129401
Breiderhoff Tilman, Himmerkus Nina, Drewell Hoora and 6 more
Genes: CLDN10, CLDN16
Mutational Landscape of DDR2 Gene in Lung Squamous Cell Carcinoma Using Next-generation Sequencing.
Clinical lung cancer | 2018-03-01 | PMID 29129434
Ricordel Charles, Lespagnol Alexandra, Llamas-Gutierrez Francisco and 8 more
Genes: DDR2, BRAF, EGFR, KRAS
The association of novel polymorphisms with stress fracture injury in Elite Athletes: Further insights from the SFEA cohort.
Journal of science and medicine in sport | 2018-06-01 | PMID 29129460
Varley Ian, Hughes David C, Greeves Julie P and 4 more
Genes: SOST, VDR
Detection of resistance to fluoroquinolones and injectable drugs among antituberculosis drugs by allele-specific primer extension on a microsphere-based platform.
Journal of microbiological methods | 2018-01-01 | PMID 29129484
Kim Kyungjong, Yang Jeong Seong, Choi Hee Baeg and 1 more
Genes: DST
Osteoclast-like giant cells in invasive breast cancer predominantly possess M2-macrophage phenotype.
Pathology, research and practice | 2018-02-01 | PMID 29129494
Ohashi Ryuji, Yanagihara Keiko, Namimatsu Shigeki and 4 more
The use of polygenic risk scores to identify phenotypes associated with genetic risk of schizophrenia: Systematic review.
Schizophrenia research | 2018-07-01 | PMID 29129507
Mistry Sumit, Harrison Judith R, Smith Daniel J and 2 more
Diffusion tensor imaging and magnetic resonance spectroscopy in a patient with adult onset tuberous sclerosis complex.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia | 2018-02-01 | PMID 29129521
Ishikawa Hidehiro, Niwa Atsushi, Asahi Masaru and 6 more
Genes: TSC2, TSC1
Identification of measles virus genotype B3 associated with outbreaks in Islamabad, Pakistan, 2013-2015.
Journal of infection and public health | 2000-01-01 | PMID 29129527
Zaidi Syed S Z, Hameed Abdul, Suleman Rana Muhammad and 8 more
Genes: CPE
Profilin Directly Promotes Microtubule Growth through Residues Mutated in Amyotrophic Lateral Sclerosis.
Current biology : CB | 2017-11-20 | PMID 29129529
Henty-Ridilla Jessica L, Juanes M Angeles, Goode Bruce L
Genes: PFN1
Mechanical Shielding of Rapidly Growing Cells Buffers Growth Heterogeneity and Contributes to Organ Shape Reproducibility.
Current biology : CB | 2017-11-20 | PMID 29129534
Hervieux Nathan, Tsugawa Satoru, Fruleux Antoine and 8 more
Treatment and Survival Outcome of BRAF-Mutated Metastatic Colorectal Cancer: A Retrospective Matched Case-Control Study.
Clinical colorectal cancer | 2018-03-01 | PMID 29129559
Kayhanian Hamzeh, Goode Emily, Sclafani Francesco and 10 more
Genes: BRAF, EGFR
Pediatric glioblastoma cells inhibit neurogenesis and promote astrogenesis, phenotypic transformation and migration of human neural progenitor cells within cocultures.
Experimental cell research | 2018-01-01 | PMID 29129566
Farrell Kurt, Mahajan Gautam, Srinivasan Parthasarathy and 2 more
Eosinophilic esophagitis (EoE) genetic susceptibility is mediated by synergistic interactions between EoE-specific and general atopic disease loci.
The Journal of allergy and clinical immunology | 2018-05-01 | PMID 29129581
Martin Lisa J, He Hua, Collins Margaret H and 7 more
Genes: TSLP, CAPN14
Identification of atopic dermatitis subgroups in children from 2 longitudinal birth cohorts.
The Journal of allergy and clinical immunology | 2018-03-01 | PMID 29129583
Paternoster Lavinia, Savenije Olga E M, Heron Jon and 7 more
Genes: FLG
Cocaine and desipramine elicit distinct striatal noradrenergic and behavioral responses in selectively bred obesity-resistant and obesity-prone rats.
Behavioural brain research | 2018-07-02 | PMID 29129597
Vollbrecht Peter J, Nesbitt Kathryn M, Mabrouk Omar S and 4 more
HLA genes in Barranquilla (North Colombia): Searching for cryptic Amerindian genes.
Human immunology | 2018-01-01 | PMID 29129648
Arnaiz-Villena Antonio, Bayona Brayan, Palacio-Gruber Jose and 7 more
Microduplication of 10q26.3 in a Chinese hypertriglyceridemia patient.
Molecular and cellular probes | 2018-02-01 | PMID 29129660
Li Jing-Jing, Chen Ya-Qin, Fan Liang-Liang and 3 more
Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson's Disease.
Neuroscience letters | 2018-04-13 | PMID 29129675
Papagiannakis Nikolaos, Koros Christos, Stamelou Maria and 8 more
Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences.
Neuroscience letters | 2018-02-22 | PMID 29129678
Mantegazza Massimo, Cestèle Sandrine
Decreased Sirtuin Deacetylase Activity in LRRK2 G2019S iPSC-Derived Dopaminergic Neurons.
Stem cell reports | 2017-12-12 | PMID 29129681
Schwab Andrew J, Sison Samantha L, Meade Michael R and 3 more
Mitochondrial tRNAThr 15909A>G mutation associated with hypertension in a Chinese Han pedigree.
Biochemical and biophysical research communications | 2018-01-01 | PMID 29129694
Li Haiying, Geng Junwei, Yu Han and 3 more
APOBEC3B edits HBV DNA and inhibits HBV replication during reverse transcription.
Antiviral research | 2018-01-01 | PMID 29129707
Chen Yanmeng, Hu Jie, Cai Xuefei and 8 more
Efficacy of hepatitis B virus ribonuclease H inhibitors, a new class of replication antagonists, in FRG human liver chimeric mice.
Antiviral research | 2018-01-01 | PMID 29129708
Long Kelly R, Lomonosova Elena, Li Qilan and 12 more
Phylogenetic analysis predicts structural divergence for proteobacterial ClpC proteins.
Journal of structural biology | 2018-01-01 | PMID 29129755
Miller Justin M, Chaudhary Hamza, Marsee Justin D
Resting State Networks Mediate the Effect of Genotype by Environment Interaction on Mental Health.
Neuroscience | 2018-01-15 | PMID 29129791
Knyazev Gennady G, Savostyanov Alexander N, Bocharov Andrey V and 2 more
Orexin-A/hypocretin-1 Immunoreactivity in the Lateral Hypothalamus is Reduced in Genetically Obese but not in Diet-induced Obese Mice.
Neuroscience | 2018-01-15 | PMID 29129795
González J Antonio, Prehn Jochen H M
Influence of LGALS3 gene polymorphisms on susceptibility and prognosis of dilated cardiomyopathy in a Northern Han Chinese population.
Gene | 2018-02-05 | PMID 29129812
Zhang Yuhui, Wang Yunhong, Zhai Mei and 7 more
Genes: LGALS3
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2).
Gene | 2018-02-05 | PMID 29129813
Wang Wen-Bo, Jia Ya-Chao, Zhang Zeng and 3 more
Genes: BMP2, GDF5
NPM1 Mutation Analysis in Acute Myeloid Leukemia: Comparison of Three Techniques - Sanger Sequencing, Pyrosequencing, and Real-Time Polymerase Chain Reaction.
Turkish journal of haematology : official journal of Turkish Society of Haematology | 2018-03-01 | PMID 29129825
Kumar Dushyant, Mehta Anurag, Panigrahi Manoj Kumar and 2 more
Genes: NPM1
Genetic Predisposition, Clinical Risk Factor Burden, and Lifetime Risk of Atrial Fibrillation.
Circulation | 2018-03-06 | PMID 29129827
Weng Lu-Chen, Preis Sarah R, Hulme Olivia L and 11 more
Identification of new genetic variants of HLA-DQB1 associated with human longevity and lipid homeostasis-a cross-sectional study in a Chinese population.
Aging | 2017-11-10 | PMID 29129831
Yang Fan, Sun Liang, Zhu Xiaoquan and 20 more
Genetic Risk Assessment of Elastin Gene Polymorphisms with Intracranial Aneurysm in Koreans.
Neurologia medico-chirurgica | 2018-01-15 | PMID 29129841
Jeon Jin Pyeong, Hong Eun Pyo, Kim Jeong Eun and 5 more
Genes: ELN
The IL18 Promoter Polymorphism, rs1946518, Is Associated with the Risk of Periodontitis in Japanese Women: The Kyushu Okinawa Maternal and Child Health Study.
The Tohoku journal of experimental medicine | 2017-11-01 | PMID 29129846
Tanaka Keiko, Miyake Yoshihiro, Hanioka Takashi and 3 more
Significance of functional disease-causal/susceptible variants identified by whole-genome analyses for the understanding of human diseases.
Proceedings of the Japan Academy. Series B, Physical and biological sciences | 2017-01-01 | PMID 29129848
Hitomi Yuki, Tokunaga Katsushi
Tumor molecular profiling of NSCLC patients using next generation sequencing.
Oncology reports | 2017-12-01 | PMID 29130105
Tsoulos Nikolaos, Papadopoulou Eirini, Metaxa-Mariatou Vasiliki and 16 more
Genes: MET, ALK, BRAF, EGFR, ERBB2, RET, ROS1
Molecular alterations of the NF2 gene in hepatocellular carcinoma and intrahepatic cholangiocarcinoma.
Oncology reports | 2017-12-01 | PMID 29130106
Zhang Ning, Zhao Zhang, Long Jiang and 9 more
A seven-gene prognostic signature for rapid determination of head and neck squamous cell carcinoma survival.
Oncology reports | 2017-12-01 | PMID 29130107
Shen Sipeng, Bai Jianling, Wei Yongyue and 9 more
Hearing loss and renal syndromes.
Pediatric nephrology (Berlin, Germany) | 2018-10-01 | PMID 29130116
Phelan Paul J, Rheault Michelle N
ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.
Neurogenetics | 2018-01-01 | PMID 29130122
Wang Jing-Yang, Zhou Peng, Wang Jie and 9 more
Genes: ARHGEF9
Late-Onset ADHD: Understanding the Evidence and Building Theoretical Frameworks.
Current psychiatry reports | 2017-11-13 | PMID 29130145
Caye Arthur, Sibley Margaret H, Swanson James M and 1 more
Padlock Probes to Detect Single Nucleotide Polymorphisms.
Methods in molecular biology (Clifton, N.J.) | 2018-01-01 | PMID 29130200
Krzywkowski Tomasz, Nilsson Mats
Genes: ACTB
[Colorectal cancer heterogeneity: genotype, phenotype and clinical manifestation].
Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery | 2017-10-25 | PMID 29130219
Cai Sanjun, Peng Junjie, Liu Fangqi
Role of microRNAs (miRNAs) in the pathophysiology of diabetes mellitus.
Panminerva medica | 2018-03-01 | PMID 29130298
Tiwari Juhi, Gupta Gaurav, de Jesus Andreoli Pinto Terezinha and 7 more
Defining baseline epigenetic landscapes in the rat liver.
Epigenomics | 2017-12-01 | PMID 29130343
Thomson John P, Ottaviano Raffaele, Buesen Roland and 3 more
Autophagy and inflammation in chronic respiratory disease.
Autophagy | 2018-01-01 | PMID 29130366
Racanelli Alexandra C, Kikkers Sarah Ann, Choi Augustine M K and 1 more
Genes: CFTR, MTOR, PAH, TGFB1, TNF
The Cuticle Mutant eca2 Modifies Plant Defense Responses to Biotrophic and Necrotrophic Pathogens and Herbivory Insects.
Molecular plant-microbe interactions : MPMI | 2018-03-01 | PMID 29130376
Blanc Catherine, Coluccia Fania, L'Haridon Floriane and 8 more
Genes: ATL2
The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity.
Autophagy | 2018-01-01 | PMID 29130391
Piano Mortari E, Folgiero V, Marcellini V and 15 more
Genes: EPG5, TLR9
Alterations of autophagy in the peripheral neuropathy Charcot-Marie-Tooth type 2B.
Autophagy | 2018-01-01 | PMID 29130394
Colecchia David, Stasi Mariangela, Leonardi Margherita and 7 more
Mechanisms and function of autophagy in intestinal disease.
Autophagy | 2018-01-01 | PMID 29130415
Lassen Kara G, Xavier Ramnik J
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.
International journal of dermatology | 2017-12-01 | PMID 29130490
Shah Khadim, Mehmood Sabba, Jan Abid and 15 more
Genes: FERMT1, ABHD5, ALOXE3, ERCC5, FLG, KRT14, PPOX
A variant in PPP4R3A protects against alzheimer-related metabolic decline.
Annals of neurology | 2017-12-01 | PMID 29130521
Christopher Leigh, Napolioni Valerio, Khan Raiyan R and 2 more
miR-140-5p-mediated regulation of the proliferation and differentiation of human dental pulp stem cells occurs through the lipopolysaccharide/toll-like receptor 4 signaling pathway.
European journal of oral sciences | 2017-12-01 | PMID 29130547
Sun De-Gang, Xin Bing-Chang, Wu Di and 4 more
Genes: TLR4
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.
American journal of medical genetics. Part A | 2018-01-01 | PMID 29130579
Guen Vincent J, Edvardson Simon, Fraenkel Nitay D and 10 more
Genes: CDK10
Familial choreoathetosis due to novel heterozygous mutation in PDE10A.
American journal of medical genetics. Part A | 2018-01-01 | PMID 29130591
Narayanan Dhanya L, Deshpande Dipti, Das Bhowmik Aneek and 2 more
Interstitial microdeletion of 17q11.2 is associated with hypotonia, fatigue, intellectual disability, and a subtle facial phenotype in three unrelated patients.
American journal of medical genetics. Part A | 2018-01-01 | PMID 29130599
Osio Deborah, Rankin Julia, Koillinen Hannele and 2 more
Genes: RHOT1, PSMD11, SUZ12
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
American journal of medical genetics. Part A | 2018-01-01 | PMID 29130604
Wenger Tara, Li Dong, Harr Margaret H and 5 more
Characterization of genetic intratumor heterogeneity in colorectal cancer and matching patient-derived spheroid cultures.
Molecular oncology | 2018-01-01 | PMID 29130628
Árnadóttir Sigrid S, Jeppesen Maria, Lamy Philippe and 8 more
Genes: APC, KRAS
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
American journal of medical genetics. Part A | 2018-01-01 | PMID 29130632
Iwata-Otsubo Aiko, Ritter Alyssa L, Weckselbatt Brooke and 4 more
Genes: DOCK3
The mitochondrial metabolic reprogramming agent trimetazidine as an 'exercise mimetic' in cachectic C26-bearing mice.
Journal of cachexia, sarcopenia and muscle | 2017-12-01 | PMID 29130633
Molinari Francesca, Pin Fabrizio, Gorini Stefania and 9 more
How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.
American journal of medical genetics. Part A | 2018-01-01 | PMID 29130637
Schwartz Mathias, Sternberg Damien, Whalen Sandra and 8 more
Genes: CHAT