Alternate PCR assays for screening of JH1 mutation associated with embryonic death in Jersey cattle.
Molecular and cellular probes | 2021-02-01 | PMID 33279530
Kumar Anshuman, Gupta Ishwar Dayal, Mohan Govind and 5 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 8386 of 10600
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
The Journal of allergy and clinical immunology | 2021-06-01 | PMID 33279574
Schim van der Loeff Ina, Sprenkeler Evelien G G, Tool Anton T J and 7 more
A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.
Mitochondrion | 2021-03-01 | PMID 33279600
Lin Yan, Xu Xuebi, Wang Wei and 7 more
Pharmacological intervention in a transgenic mouse model improves Alzheimer's-associated pathological phenotype: Involvement of proteasome activation.
Free radical biology & medicine | 2021-01-01 | PMID 33279620
Mladenovic Djordjevic Aleksandra N, Kapetanou Marianna, Loncarevic-Vasiljkovic Natasa and 8 more
Lysine acetylation of NKG2D ligand Rae-1 stabilizes the protein and sensitizes tumor cells to NKG2D immune surveillance.
Cancer letters | 2021-04-01 | PMID 33279621
Hu Jiemiao, Xia Xueqing, Zhao Qingnan and 1 more
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
The international journal of biochemistry & cell biology | 2021-03-01 | PMID 33279678
Mereis Michelle, Wanders Ronald J A, Schoonen Maryke and 3 more
Conditioned medium harvested from Hif1α engineered mesenchymal stem cells ameliorates LAD-occlusion -induced injury in rat acute myocardial ischemia model.
The international journal of biochemistry & cell biology | 2021-01-01 | PMID 33279679
Alijani-Ghazyani Zahra, Roushandeh Amaneh Mohammadi, Sabzevari Reza and 4 more
Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks.
Journal of biomedical informatics | 2021-01-01 | PMID 33279681
Salvatore Maxwell, Beesley Lauren J, Fritsche Lars G and 5 more
Frequency and patterns of first- and second-line drug resistance-conferring mutations in Mycobacterium tuberculosis isolated from pulmonary tuberculosis patients in a cross-sectional study in Tigray Region, Ethiopia.
Journal of global antimicrobial resistance | 2021-03-01 | PMID 33279682
Welekidan Letemichael Negash, Skjerve Eystein, Dejene Tsehaye Asmelash and 4 more
A Mitochondrial DNA Variant Elevates the Risk of Gallstone Disease by Altering Mitochondrial Function.
Cellular and molecular gastroenterology and hepatology | 2021-01-01 | PMID 33279689
Sun Dayan, Niu Zhenmin, Zheng Hong-Xiang and 6 more
Rescue from Pseudomonas aeruginosa Airway Infection via Stem Cell Transplantation.
Molecular therapy : the journal of the American Society of Gene Therapy | 2021-03-03 | PMID 33279724
Brinkert Kerstin, Hedtfeld Silke, Burhop Annina and 15 more
Genes: CD68, CFTR
Primary ciliary dyskinesia relative protein ZMYND10 is involved in regulating ciliary function and intraflagellar transport in Paramecium tetraurelia.
European journal of protistology | 2021-02-01 | PMID 33279757
Shi Lei, Shen Xiangyu, Chi Yuhao and 1 more
Metabolic and Genetic Risk Factors Are the Strongest Predictors of Severity of Alcohol-Related Liver Fibrosis.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association | 2022-08-01 | PMID 33279778
Israelsen Mads, Juel Helene Bæk, Detlefsen Sönke and 9 more
Exome-wide rare variant analysis in familial essential tremor.
Parkinsonism & related disorders | 2021-01-01 | PMID 33279834
Diez-Fairen Monica, Houle Gabrielle, Ortega-Cubero Sara and 30 more
Erlotinib plus bevacizumab vs erlotinib monotherapy as first-line treatment for advanced EGFR mutation-positive non-squamous non-small-cell lung cancer: Survival follow-up results of the randomized JO25567 study.
Lung cancer (Amsterdam, Netherlands) | 2021-01-01 | PMID 33279874
Yamamoto N, Seto T, Nishio M and 7 more
Association of Tumor Necrosis Factor-Alpha-308 G/A and -238 G/A Polymorphism with Diabetic Retinopathy: A Systematic Review and Updated Meta-Analysis.
Ophthalmic research | 2021-01-01 | PMID 33279899
Gao Wenna, Zhu Ruilin, Yang Liu
ERBB2 Pathway in Biliary Tract Carcinoma: Clinical Implications of a Targetable Pathway.
Oncology research and treatment | 2021-01-01 | PMID 33279901
Jacobi Oded, Ross Jeffrey S, Goshen-Lago Tal and 5 more
Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder.
Translational psychiatry | 2020-12-05 | PMID 33279929
Kato Hidekazu, Kushima Itaru, Mori Daisuke and 30 more
Atrial fibrillation-a complex polygenetic disease.
European journal of human genetics : EJHG | 2021-07-01 | PMID 33279945
Andersen Julie H, Andreasen Laura, Olesen Morten S
Stepwise crosstalk between aberrant Nf1, Tp53 and Rb signalling pathways induces gliomagenesis in zebrafish.
Brain : a journal of neurology | 2021-03-03 | PMID 33279959
Luo Juanjuan, Liu Pei, Lu Chunjiao and 9 more
Brain Network Simulations Indicate Effects of Neuregulin-1 Genotype on Excitation-Inhibition Balance in Cortical Dynamics.
Cerebral cortex (New York, N.Y. : 1991) | 2021-03-05 | PMID 33279967
Klein Pedro Costa, Ettinger Ulrich, Schirner Michael and 6 more
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Clinical chemistry | 2021-03-01 | PMID 33280026
Feliubadaló Lidia, Moles-Fernández Alejandro, Santamariña-Pena Marta and 16 more
Analysis of a single-institution cohort of patients with Felty's syndrome and T-cell large granular lymphocytic leukemia in the setting of rheumatoid arthritis.
Rheumatology international | 2021-01-01 | PMID 33280072
Gorodetskiy Vadim Romanovich, Sidorova Yulia Vladimirovna, Kupryshina Natalia Alexandrovna and 4 more
Acclimation of Chlamydomonas reinhardtii to extremely strong light.
Photosynthesis research | 2021-01-01 | PMID 33280077
Virtanen Olli, Khorobrykh Sergey, Tyystjärvi Esa
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
Epilepsia | 2021-01-01 | PMID 33280099
Schneider Amy L, Myers Candace T, Muir Alison M and 22 more
Phenome-wide association study in adult coeliac disease: role of HLA subtype.
Alimentary pharmacology & therapeutics | 2021-02-01 | PMID 33280147
Schneider Carolin V, Kleinjans Moritz, Fromme Malin and 2 more
The novel Nrf2 activator CDDO-EA attenuates cerebral ischemic injury by promoting microglia/macrophage polarization toward M2 phenotype in mice.
CNS neuroscience & therapeutics | 2021-01-01 | PMID 33280237
Lei Xia, Li Hanxia, Li Min and 5 more
Benzo[a]pyrene exposure and overcrowding stress impacts anxiety-like behavior and impairs learning and memory in adult zebrafish, Danio rerio.
Environmental toxicology | 2021-03-01 | PMID 33280238
Aparna Sai, Patri Manorama
Association of CHI3L1 gene variants with YKL-40 levels and hypertension incidence: A population-based nested case-control study in China.
Journal of cellular and molecular medicine | 2021-01-01 | PMID 33280245
Xu Tian, Zheng Xiaowei, Wang Aili and 2 more
Pluripotent stem cell-based screening identifies CUDC-907 as an effective compound for restoring the in vitro phenotype of Nakajo-Nishimura syndrome.
Stem cells translational medicine | 2021-03-01 | PMID 33280267
Kase Naoya, Terashima Madoka, Ohta Akira and 6 more
Genes: PSMB8
Philadelphia-negative myeloproliferative neoplasms among Kuwaiti Nationals.
Cancer medicine | 2021-01-01 | PMID 33280271
Alshemmari Salem, Almazyad Mazyad, Alwehaib Aisha and 1 more
Emerging drugs for the treatment of chronic myelomonocytic leukemia.
Expert opinion on emerging drugs | 2020-12-01 | PMID 33280448
Ramos Perez Jorge, Montalban-Bravo Guillermo
MFAP2 Promotes the Proliferation of Cancer Cells and Is Associated With a Poor Prognosis in Hepatocellular Carcinoma.
Technology in cancer research & treatment | 2000-01-01 | PMID 33280519
Zhu Xiang, Cheng Ye, Wu Fan and 6 more
Investigating the Impact of Different Acrylamide (Electrophilic Warhead) on Osimertinib's Pharmacological Spectrum by Molecular Mechanic and Quantum Mechanic Approach.
Combinatorial chemistry & high throughput screening | 2022-01-01 | PMID 33280593
Patel Harun, Ahmad Iqrar, Jadhav Harsha and 3 more
Predictive value of clinical toxicities of chemotherapy with fluoropyrimidines and oxaliplatin in colorectal cancer by DPYD and GSTP1 gene polymorphisms.
World journal of surgical oncology | 2020-12-06 | PMID 33280607
Deng Xunwei, Hou Jingyuan, Deng Qiaoting and 1 more
Depletion of gipc-1 and gipc-2 causes infertility in Caenorhabditis elegans by reducing sperm motility.
Biochemical and biophysical research communications | 2021-01-01 | PMID 33280819
Kim Jaehoon, Min Hyemin, Ko Sunhee and 1 more
Causal relationships between gut metabolites and Alzheimer's disease: a bidirectional Mendelian randomization study.
Neurobiology of aging | 2021-04-01 | PMID 33280888
Zhuang Zhenhuang, Gao Meng, Yang Ruotong and 3 more
Impact of ESR1 Polymorphisms on Risk of Breast Cancer in the Chinese Han Population.
Clinical breast cancer | 2021-06-01 | PMID 33281037
Yang Wei, He Xue, He Chunjuan and 6 more
A genome-wide association study in Japanese identified one variant associated with a preference for a Japanese dietary pattern.
European journal of clinical nutrition | 2021-06-01 | PMID 33281188
Suzuki Harumitsu, Nakamura Yasuyuki, Matsuo Keitaro and 34 more
Analysis of the mutational status of SIX1/2 and microRNA processing genes in paired primary and relapsed Wilms tumors and association with relapse.
Cancer gene therapy | 2021-09-01 | PMID 33281191
Ciceri Sara, Montalvão-de-Azevedo Rafaela, Tajbakhsh Amir and 18 more
Does Maternal Normal Range Thyroid Function Play a Role in Offspring Birth Weight? Evidence From a Mendelian Randomization Analysis.
Frontiers in endocrinology | 2020-01-01 | PMID 33281750
Zhang Xinghao, Wu Pengfei, Chen Yuyao and 4 more
Polymorphisms in Fc Gamma Receptors and Susceptibility to Malaria in an Endemic Population.
Frontiers in immunology | 2020-01-01 | PMID 33281811
Amiah Mireille Ahou, Ouattara Amed, Okou David Tea and 2 more
Th2 Biased Immunity With Altered B Cell Profiles in Circulation of Patients With Sporotrichosis Caused by Sporothrix globosa.
Frontiers in immunology | 2020-01-01 | PMID 33281813
Zu Jianjiao, Yao Lei, Song Yang and 5 more
Lack of Association between rs4680 Polymorphism in Catechol-O-Methyltransferase Gene and Alcohol Use Disorder: A Meta-Analysis.
Disease markers | 2020-01-01 | PMID 33282008
Jin Xin-Rong, Zhao Zhi-Qiang
Clinicopathological associations and prognostic values of IDH1 gene mutation, MGMT gene promoter methylation, and PD-L1 expressions in high-grade glioma treated with standard treatment.
The Pan African medical journal | 2020-01-01 | PMID 33282092
July Julius, Patricia Diana, Gunawan Pricilla Yani and 10 more
Dysbiotic Lesional Microbiome With Filaggrin Missense Variants Associate With Atopic Dermatitis in India.
Frontiers in cellular and infection microbiology | 2020-01-01 | PMID 33282748
Nath Shankha, Kumari Naina, Bandyopadhyay Debabrata and 4 more
Biological Profiling Enables Rapid Mechanistic Classification of Phenotypic Screening Hits and Identification of KatG Activation-Dependent Pyridine Carboxamide Prodrugs With Activity Against Mycobacterium tuberculosis.
Frontiers in cellular and infection microbiology | 2020-01-01 | PMID 33282750
Chengalroyen Melissa D, Jordaan Audrey, Seldon Ronnett and 5 more
Effect of EGLN1 Genetic Polymorphisms on Hemoglobin Concentration in Andean Highlanders.
BioMed research international | 2020-01-01 | PMID 33282944
Yasukochi Yoshiki, Nishimura Takayuki, Ugarte Juan and 6 more
Inhibition of Wilms' Tumor Proliferation and Invasion by Blocking TGF-β Receptor I in the TGF-β/Smad Signaling Pathway.
BioMed research international | 2020-01-01 | PMID 33282954
Shi Qinlin, Wu Huan, Li Yonglin and 4 more
Elevated Blood Pressure Increases Pneumonia Risk: Epidemiological Association and Mendelian Randomization in the UK Biobank.
Med (New York, N.Y.) | 2021-02-12 | PMID 33283203
Zekavat Seyedeh M, Honigberg Michael, Pirruccello James P and 5 more
Urinary metabolite quantitative trait loci in children and their interaction with dietary factors.
Human molecular genetics | 2021-02-04 | PMID 33283231
Calvo-Serra Beatriz, Maitre Léa, Lau Chung-Ho E and 17 more
Acute Myeloid Leukemia Case Harboring Unusual FLT3 Variant: Somatic vs Germline?
Laboratory medicine | 2021-05-04 | PMID 33283233
Singh Nirupama, Morlote Diana, Vnencak-Jones Cindy and 2 more
The combinatorial diversity of KIR and HLA class I allotypes in Peninsular Malaysia.
Immunology | 2021-04-01 | PMID 33283280
Tao Sudan, Kichula Katherine M, Harrison Genelle F and 8 more
Genotyping of Toxoplasma gondii in a lethal toxoplasmosis outbreak affecting captive howler monkeys (Alouatta sp.).
Journal of medical primatology | 2021-04-01 | PMID 33283281
Santana Clarissa Helena, de Oliveira Ayisa Rodrigues, Dos Santos Daniel O and 12 more
Association Between the Aldehyde Dehydrogenase-2 rs671 G>A Polymorphism and Head and Neck Cancer Susceptibility: A Meta-Analysis in East Asians.
Alcoholism, clinical and experimental research | 2021-02-01 | PMID 33283290
Du Xin-Ya, Wen Li, Hu Yuan-Yuan and 5 more
Ray flower initiation in the Helianthus radula inflorescence is influenced by a functional allele of the HrCYC2c gene.
Genesis (New York, N.Y. : 2000) | 2020-12-01 | PMID 33283401
Fambrini Marco, Bernardi Rodolfo, Pugliesi Claudio
Assembly of the non-heading pak choi genome and comparison with the genomes of heading Chinese cabbage and the oilseed yellow sarson.
Plant biotechnology journal | 2021-05-01 | PMID 33283404
Li Peirong, Su Tongbing, Zhao Xiuyun and 7 more
The epidermal growth factor receptor variant type III mutation frequently found in gliomas induces astrogenesis in human cerebral organoids.
Cell proliferation | 2021-02-01 | PMID 33283409
Kim Hyun-Mun, Lee Sang-Hyeok, Lim Jaejoon and 2 more
Genes: GFAP, EGFR
Identification of large genetic variations in the equine infectious anemia virus tat-gag genomic region.
Transboundary and emerging diseases | 2021-11-01 | PMID 33283463
Cursino Andreia Elisa, Lima Maurício Teixeira, Nogueira Márcia Furlan and 5 more
The Safe Soluble Compound Dehydroascorbic Acid Inhibits Various Upstream and Downstream Effectors of PI3K and KRAS Signaling Pathways in Undruggable PIK3CA/KRAS-Mutant Colorectal Cancer Stem-Like Cells.
Nutrition and cancer | 2021-01-01 | PMID 33283545
Kalbkhani Fahimeh, Pirnejad Ali, Sam Sohrab and 1 more
Genetic factors influencing the development of vincristine-induced neurotoxicity.
Expert opinion on drug metabolism & toxicology | 2021-02-01 | PMID 33283553
Pozzi Eleonora, Fumagalli Giulia, Chiorazzi Alessia and 2 more
Exploring the real-world effect of the SARS-CoV-2 pandemic on the molecular diagnostics for cancer patients and high-risk individuals.
Expert review of molecular diagnostics | 2021-01-01 | PMID 33283554
Cavic Milena, Krivokuca Ana, Boljevic Ivana and 6 more
The circ_0004463/miR-380-3p/FOXO1 axis modulates mitochondrial respiration and bladder cancer cell apoptosis.
Cell cycle (Georgetown, Tex.) | 2020-12-01 | PMID 33283616
Wu Shuiqing, Deng Huanghao, He Haiqing and 6 more
Differences in RAAS/vitamin D linked to genetics and socioeconomic factors could explain the higher mortality rate in African Americans with COVID-19.
Therapeutic advances in cardiovascular disease | 2000-01-01 | PMID 33283618
Martín Giménez Virna Margarita, Ferder León, Inserra Felipe and 2 more
Novel Fanconi renotubular syndromes provide insights in proximal tubule pathophysiology.
American journal of physiology. Renal physiology | 2021-02-01 | PMID 33283647
Lemaire Mathieu
[Gene Mutation in Acute Lymphoblastic Leukemia by DNA Sequencing].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283700
Zheng Ru-Yue, Wang Shu-Juan, Wang Chong and 10 more
[Analysis of Gene Mutation and Clinical Characteristics in 19 Children with Juvenile Myelomonocytic Leukemia].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283703
Weng Kai-Zhi, Zheng Yong-Zhi, Zhuang Shu-Quan and 2 more
[Clinical Analysis of Gene Mutation in Adult Patients with B-ALL and Its Influence on Clinical Prognosis].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283712
Deng Mei, Zuo Wen-Li, Zhang Chun-Lei and 2 more
[Prognostic Value of CD123 in Acute Myeloid Leukemia Patients with Intermediate Risk in Normal Karyotype].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283714
Zhang Yu, Liu Ruo-Yang, Wang Shu-Juan and 7 more
[Correlation between U2AF1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodysplastic Syndrome].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283729
Zhao Wen-Shu, Zhang Yin-Tian, Jiang Qian-Li and 2 more
[Significance of Targeted Sequencing Assay for Patients with Suspected Myeloid Malignancies].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283730
Zhang Li-Juan, Shi Yu-Ye, Chen Yue and 8 more
[Detection of JAK2V617F and CALR Gene Mutations by Multiplex of Patients with Myeloproliferative Neoplasms PCR-Capillary Electrophoresis].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283732
Yuan Jian-Long, Shi Ying-Xu, DU Hua and 4 more
[Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283733
Cen Yan-Xia, Li Yan
[Analysis of Gene Mutation Types of Thalassemia in Yulin Childbearing-age Population of Guangxi China].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283734
Li Dong-Ming, Li Ji-Hui, Chen De-Min and 1 more
[Analysis and Prevention of Gene Mutation Types of Severe Thala- ssemia in Hakka People in Gannan of Jiangxi Province].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283735
Lin Chuan-Ming, Zhong Tian-Yu, Liu Shao-Qiong and 5 more
[Clinical Features of Pregnant Women with Thalassemia in Non Endemic Area].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283736
Ge Qun-Fang, Wang Yi, Zhang Yi and 3 more
[Analysis of Phenotype and Genotype of A Family with Hereditary Coagulation Factor Ⅴ Deficiency Caused by A Compound Heterozygous Mutation].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283738
Kong Rong-Xia, Xie Yao-Sheng, Xie Hai-Xiao and 2 more
[Level of Microparticles in Patients with Essential Thrombocythemia and Its Relation with JAK2V617F Mutation].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283740
Zhao Shi-Xiang, Yang Tong-Hua, Pei Qiang and 1 more
[Two Novel Mutations at the CD36 Gene Splicing Sites and Their Molecular Basis for the CD36 Deficiency].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283742
Li Li-Lan, Chen Jie-Run, Jiang Li-Hong and 5 more
[Analysis on Polymorphism of Platelet Antigen Gene in Shandong Han Population].
Zhongguo shi yan xue ye xue za zhi | 2020-12-01 | PMID 33283743
Liu Yan, Zhu Hai-Feng, Qiao Wen-Ben and 5 more
Outcome of hepatitis C patients in a community with predominant genotype 3 with standard-of-care treatment before and after advent of direct-acting antivirals: A retrospective-cum-prospective study.
Indian journal of pharmacology | 2000-01-01 | PMID 33283768
Kadla Showkat Ahmad, Dar Mohamad Amin, Shah Nisar Ahmad and 4 more
Presence of allele CYP3A4*16 does not have any bearing on carbamazepine-induced adverse drug reactions in North Indian people with epilepsy.
Indian journal of pharmacology | 2000-01-01 | PMID 33283769
Garg Vivek Kumar, Goyal Manoj Kumar, Khullar Madhu and 12 more
Sand Fly (Phlebotomus papatasi) Embryo Microinjection for CRISPR/Cas9 Mutagenesis.
Journal of visualized experiments : JoVE | 2020-11-17 | PMID 33283789
Louradour Isabelle, Ghosh Kashinath, Inbar Ehud and 3 more
Immunization with a heat-killed bacterium, Mycobacterium vaccae NCTC 11659, prevents the development of cortical hyperarousal and a PTSD-like sleep phenotype after sleep disruption and acute stress in mice.
Sleep | 2021-06-11 | PMID 33283862
Bowers Samuel J, Lambert Sophie, He Shannon and 5 more
Acclimation of leaf photosynthesis and respiration to warming in field-grown wheat.
Plant, cell & environment | 2021-07-01 | PMID 33283881
Coast Onoriode, Posch Bradley C, Bramley Helen and 6 more
Association of RANK and RANKL gene polymorphism with survival and calcium levels in multiple myeloma.
Molecular carcinogenesis | 2021-02-01 | PMID 33283899
Łacina Piotr, Butrym Aleksandra, Humiński Michał and 4 more
Untangling a Gordian knot: the role of a GluCl3 I321T mutation in abamectin resistance in Tetranychus urticae.
Pest management science | 2021-04-01 | PMID 33283957
Xue Wenxin, Mermans Catherine, Papapostolou Kyriaki-Maria and 7 more
Aplasia cutis congenita in a CDC42-related developmental phenotype.
American journal of medical genetics. Part A | 2021-03-01 | PMID 33283961
Schnabel Franziska, Kamphausen Susanne B, Funke Rudolf and 3 more
Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.
Journal of child neurology | 2021-04-01 | PMID 33284031
Fox Jordana, Thodeson Drew M, Dolce Alison M
Mitochondrial ND1 T4216C and ND2 C5178A mutations are associated with maternally transmitted diabetes mellitus.
Mitochondrial DNA. Part A, DNA mapping, sequencing, and analysis | 2021-03-01 | PMID 33284036
Jiang Zhaochang, Teng Lili, Zhang Shunrong and 1 more
Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy.
Circulation. Genomic and precision medicine | 2021-02-01 | PMID 33284039
Lakdawala Neal K, Olivotto Iacopo, Day Sharlene M and 18 more
Lox'd in translation: contradictions in the nomenclature surrounding common lox-site mutants and their implications in experiments.
Microbiology (Reading, England) | 2021-01-01 | PMID 33284099
Shaw Daniel, Serrano Luis, Lluch-Senar Maria
TrpML-mediated astrocyte microdomain Ca2+ transients regulate astrocyte-tracheal interactions.
eLife | 2020-12-07 | PMID 33284108
Ma Zhiguo, Freeman Marc R
Identification of a New Genetic Mutation Associated With Peters Anomaly.
Cornea | 2021-03-01 | PMID 33284162
Faber Hanna, Puk Oliver, Holz Anja and 2 more
Binding and transport of SFPQ-RNA granules by KIF5A/KLC1 motors promotes axon survival.
The Journal of cell biology | 2021-01-04 | PMID 33284322
Fukuda Yusuke, Pazyra-Murphy Maria F, Silagi Elizabeth S and 13 more
Effect of Routine Cytochrome P450 2D6 and 2C19 Genotyping on Antipsychotic Drug Persistence in Patients With Schizophrenia: A Randomized Clinical Trial.
JAMA network open | 2020-12-01 | PMID 33284338
Jürgens Gesche, Andersen Stig E, Rasmussen Henrik B and 4 more
Replication study and meta-analysis indicate a suggestive association of RUNX3 locus with primary biliary cholangitis.
Immunogenetics | 2020-12-01 | PMID 33284381
Jawed Rohil, Zhang Mingming, Wang Chan and 12 more
Resident cardiac macrophages: crucial modulators of cardiac (patho)physiology.
Basic research in cardiology | 2020-12-07 | PMID 33284387
Sansonetti M, Waleczek F J G, Jung M and 2 more
Association between rs662 (A > G) and rs854560 (A > T) polymorphisms in PON1 gene and the susceptibility for psoriasis in mestizo population of Western Mexico.
Molecular biology reports | 2021-01-01 | PMID 33284416
Hernández-Collazo A A, Pérez-Méndez Oscar, López-Olmos Victoria and 7 more
Asking the Clock: How to Use Information from Questionnaires for Circadian Phenotyping.
Methods in molecular biology (Clifton, N.J.) | 2021-01-01 | PMID 33284437
Vetter Céline, Winnebeck Eva C, Roenneberg Till