Apoptotic Platelet Events Are Not Observed in Severe von Willebrand Disease-Type 2B Mutation p.V1316M.
PloS one | 2015-01-01 | PMID 26645283
Berrou Eliane, Kauskot Alexandre, Adam Frédéric and 10 more
Genes: VWF
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 6710 of 10600
Selection of highly informative SNP markers for population affiliation of major US populations.
International journal of legal medicine | 2016-03-01 | PMID 26645290
Zeng Xiangpei, Chakraborty Ranajit, King Jonathan L and 3 more
Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.
BMC genomics | 2015-12-09 | PMID 26645365
Das Ashutosh, Panitz Frank, Gregersen Vivi Raundahl and 2 more
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia.
Journal of neurology | 2016-02-01 | PMID 26645390
Schwarz N, Hahn A, Bast T and 11 more
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
Journal of neurology | 2016-02-01 | PMID 26645395
Berciano José, Peeters Kristien, García Antonio and 7 more
Genes: NEFL
The N17 domain mitigates nuclear toxicity in a novel zebrafish Huntington's disease model.
Molecular neurodegeneration | 2015-12-09 | PMID 26645399
Veldman Matthew B, Rios-Galdamez Yesenia, Lu Xiao-Hong and 5 more
Genes: HTT
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.
Developmental medicine and child neurology | 2016-04-01 | PMID 26645412
Papandreou Apostolos, McTague Amy, Trump Natalie and 5 more
Genes: GABRB3
Maize reas1 Mutant Stimulates Ribosome Use Efficiency and Triggers Distinct Transcriptional and Translational Responses.
Plant physiology | 2016-02-01 | PMID 26645456
Qi Weiwei, Zhu Jie, Wu Qiao and 7 more
On the Sample Complexity of Cancer Pathways Identification.
Journal of computational biology : a journal of computational molecular cell biology | 2016-01-01 | PMID 26645471
Vandin Fabio, Raphael Benjamin J, Upfal Eli
Structural and biophysical investigation of the interaction of a mutant Grb2 SH2 domain (W121G) with its cognate phosphopeptide.
Protein science : a publication of the Protein Society | 2016-03-01 | PMID 26645482
Papaioannou Danai, Geibel Sebastian, Kunze Micha B A and 2 more
Unitary construct of generalized cognitive ability underlying BACS performance across psychotic disorders and in their first-degree relatives.
Schizophrenia research | 2016-01-01 | PMID 26645510
Hochberger W C, Hill S K, Nelson C L M and 7 more
Rapid Increase in frequency of gene copy-number variants during experimental evolution in Caenorhabditis elegans.
BMC genomics | 2015-12-09 | PMID 26645535
Farslow James C, Lipinski Kendra J, Packard Lucille B and 6 more
Prevalence, Genetic Characterization, and 18S Small Subunit Ribosomal RNA Diversity of Trypanosoma rangeli in Triatomine and Mammal Hosts in Endemic Areas for Chagas Disease in Ecuador.
Vector borne and zoonotic diseases (Larchmont, N.Y.) | 2015-12-01 | PMID 26645579
Ocaña-Mayorga Sofia, Aguirre-Villacis Fernanda, Pinto C Miguel and 2 more
Cryptic 13q34 and 4q35.2 Deletions in an Italian Family.
Cytogenetic and genome research | 2015-01-01 | PMID 26645620
Riccardi Federica, Rivolta Gianna F, Uliana Vera and 11 more
Genes: FRG1, FRG2, LAMP1, PCID2, PROZ
Association between genetic risk scoring for schizophrenia and bipolar disorder with regional subcortical volumes.
Translational psychiatry | 2015-12-08 | PMID 26645627
Caseras X, Tansey K E, Foley S and 1 more
Group A streptococcal strains isolated in Lao People's Democratic Republic from 2004 to 2013.
Epidemiology and infection | 2016-06-01 | PMID 26645633
Rattanavong S, Dance D A B, Davong V and 7 more
Genetic variants in PI3K/AKT pathway are associated with severe radiation pneumonitis in lung cancer patients treated with radiation therapy.
Cancer medicine | 2016-01-01 | PMID 26645682
Tang Yang, Liu Bo, Li Jing and 7 more
Genes: AKT2
Molecular Basis of Filtering Carbapenems by Porins from β-Lactam-resistant Clinical Strains of Escherichia coli.
The Journal of biological chemistry | 2016-02-05 | PMID 26645688
Bajaj Harsha, Scorciapino Mariano A, Moynié Lucile and 4 more
Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis.
Pediatric dermatology | 2000-01-01 | PMID 26645693
Mehmood Sabba, Shah Sayed Hajan, Jan Abid and 4 more
Genes: LIPH
Topography of the TH5 Segment in the Diphtheria Toxin T-Domain Channel.
The Journal of membrane biology | 2016-04-01 | PMID 26645703
Kienker Paul K, Wu Zhengyan, Finkelstein Alan
EGFR mutation and lobar location of lung adenocarcinoma.
Carcinogenesis | 2016-02-01 | PMID 26645716
Tseng Chien-Hua, Chen Kun-Chieh, Hsu Kuo-Hsuan and 24 more
Genes: EGFR
Evaluation of potential regulatory function of breast cancer risk locus at 6q25.1.
Carcinogenesis | 2016-02-01 | PMID 26645718
Sun Yaqiong, Ye Chuanzhong, Guo Xingyi and 6 more
Genes: AKAP12, ESR1
Thoracic Myoepithelial Tumors: A Pathologic and Molecular Study of 8 Cases With Review of the Literature.
The American journal of surgical pathology | 2016-02-01 | PMID 26645726
Leduc Charles, Zhang Lei, Öz Buge and 4 more
Genes: EWSR1, FUS, HMGA2, PLAG1, KLF17, PBX1
Melanomas Associated With Blue Nevi or Mimicking Cellular Blue Nevi: Clinical, Pathologic, and Molecular Study of 11 Cases Displaying a High Frequency of GNA11 Mutations, BAP1 Expression Loss, and a Predilection for the Scalp.
The American journal of surgical pathology | 2016-03-01 | PMID 26645730
Costa Sebastian, Byrne Michelle, Pissaloux Daniel and 13 more
Genes: BAP1, GNA11, GNAQ
Synthesis and Structure-Activity Relationships of Substituted Urea Derivatives on Mouse Melanocortin Receptors.
ACS chemical neuroscience | 2016-02-17 | PMID 26645732
Singh Anamika, Kast Johannes, Dirain Marvin L S and 2 more
Comparison of Leishmania killicki (syn. L. tropica) and Leishmania tropica Population Structure in Maghreb by Microsatellite Typing.
PLoS neglected tropical diseases | 2015-12-01 | PMID 26645812
Chaara Dhekra, Bañuls Anne-Laure, Haouas Najoua and 7 more
The Caenorhabditis elegans Ephrin EFN-4 Functions Non-cell Autonomously with Heparan Sulfate Proteoglycans to Promote Axon Outgrowth and Branching.
Genetics | 2016-02-01 | PMID 26645816
Schwieterman Alicia A, Steves Alyse N, Yee Vivian and 13 more
Distal bile duct carcinomas and pancreatic ductal adenocarcinomas: postulating a common tumor entity.
Cancer medicine | 2016-01-01 | PMID 26645826
Schmuck Rosa B, de Carvalho-Fischer Cynthia V, Neumann Christopher and 2 more
Different EGFR Gene Mutations in Exon 18, 19 and 21 as Prognostic and Predictive Markers in NSCLC: A Single Institution Analysis.
Molecular diagnosis & therapy | 2016-02-01 | PMID 26645830
Rossi Sabrina, D'Argento Ettore, Basso Michele and 6 more
Genes: EGFR
Endothelin B receptor expression in malignant gliomas: the perivascular immune escape mechanism of gliomas.
Journal of neuro-oncology | 2016-03-01 | PMID 26645886
Nakashima Shinji, Sugita Yasuo, Miyoshi Hiroaki and 8 more
Liquid biopsy for detection of actionable oncogenic mutations in human cancers and electric field induced release and measurement liquid biopsy (eLB).
The Analyst | 2016-01-21 | PMID 26645892
Tu Michael, Chia David, Wei Fang and 1 more
Genes: EGFR, KRAS
Potential sites of CFTR activation by tyrosine kinases.
Channels (Austin, Tex.) | 2016-01-01 | PMID 26645934
Billet Arnaud, Jia Yanlin, Jensen Timothy J and 4 more
Genes: CFTR
Transcriptome profiling and validation of gene based single nucleotide polymorphisms (SNPs) in sorghum genotypes with contrasting responses to cold stress.
BMC genomics | 2015-12-09 | PMID 26645959
Chopra Ratan, Burow Gloria, Hayes Chad and 3 more
Ikaros, Helios, and Aiolos protein levels increase in human thymocytes after β selection.
Immunologic research | 2016-04-01 | PMID 26645971
Mitchell Julie L, Seng Amara, Yankee Thomas M
Single-nucleotide polymorphisms in the PLA2R1 gene are associated with systemic lupus erythematosus and lupus nephritis in a Chinese Han population.
Immunologic research | 2016-02-01 | PMID 26645973
Li Yuan, Zhou Aihong, Lv Guanting and 9 more
Integrative miRNA and whole-genome analyses of epicardial adipose tissue in patients with coronary atherosclerosis.
Cardiovascular research | 2016-02-01 | PMID 26645979
Vacca Michele, Di Eusanio Marco, Cariello Marica and 13 more
Genes: CAD, CCL13
The Endospore-Forming Pathogen Bacillus cereus Exploits a Small Colony Variant-Based Diversification Strategy in Response to Aminoglycoside Exposure.
mBio | 2015-12-08 | PMID 26646008
Frenzel Elrike, Kranzler Markus, Stark Timo D and 2 more
Helicobacter pylori Resists the Antimicrobial Activity of Calprotectin via Lipid A Modification and Associated Biofilm Formation.
mBio | 2015-12-08 | PMID 26646009
Gaddy Jennifer A, Radin Jana N, Cullen Thomas W and 4 more
Determinants of frequency-dependent regulation of Kv1.2-containing potassium channels.
Channels (Austin, Tex.) | 2016-01-01 | PMID 26646078
Baronas Victoria A, Yang Runying, Vilin Yury Y and 1 more
Developmental programming: interaction between prenatal BPA exposure and postnatal adiposity on metabolic variables in female sheep.
American journal of physiology. Endocrinology and metabolism | 2016-02-01 | PMID 26646100
Veiga-Lopez Almudena, Moeller Jacob, Sreedharan Rohit and 5 more
JMJ704 positively regulates rice defense response against Xanthomonas oryzae pv. oryzae infection via reducing H3K4me2/3 associated with negative disease resistance regulators.
BMC plant biology | 2015-12-09 | PMID 26646110
Hou Yuxuan, Wang Liyuan, Wang Ling and 6 more
Diversity and Divergence of Dinoflagellate Histone Proteins.
G3 (Bethesda, Md.) | 2015-12-08 | PMID 26646152
Marinov Georgi K, Lynch Michael
A Genome-Wide Screen with Nicotinamide to Identify Sirtuin-Dependent Pathways in Saccharomyces cerevisiae.
G3 (Bethesda, Md.) | 2015-12-08 | PMID 26646153
Choy John S, Qadri Bayan, Henry Leah and 3 more
Prevalence and clinicopathological characteristics of ALK fusion subtypes in lung adenocarcinomas from Chinese populations.
Journal of cancer research and clinical oncology | 2016-04-01 | PMID 26646246
Zheng Difan, Wang Rui, Zhang Yang and 10 more
Genes: ALK, EML4
Targeted silver nanoparticles for ratiometric cell phenotyping.
Nanoscale | 2016-04-28 | PMID 26646247
Willmore Anne-Mari A, Simón-Gracia Lorena, Toome Kadri and 7 more
VNTR polymorphisms of the IL-4 and IL-1RN genes and their relationship with frailty syndrome in Mexican community-dwelling elderly.
Aging clinical and experimental research | 2016-10-01 | PMID 26646252
Pérez-Suárez Thalía Gabriela, Gutiérrez-Robledo Luis Miguel, Ávila-Funes José Alberto and 8 more
Distinction of Invasive Carcinoma Derived From Intraductal Papillary Mucinous Neoplasms From Concomitant Ductal Adenocarcinoma of the Pancreas Using Molecular Biomarkers.
Pancreas | 2016-07-01 | PMID 26646266
Tamura Koji, Ohtsuka Takao, Date Kenjiro and 12 more
Genes: GNAS, KRAS
Intratumor Heterogeneity of KRAS Mutation Status in Pancreatic Ductal Adenocarcinoma Is Associated With Smaller Lesions.
Pancreas | 2016-07-01 | PMID 26646269
Nagawkar Sima S, Abu-Funni Samah, Simon Einav and 5 more
Genes: KRAS
A Common CCK-B Receptor Intronic Variant in Pancreatic Adenocarcinoma in a Hungarian Cohort.
Pancreas | 2016-04-01 | PMID 26646278
Balázs Anita, Németh Balázs Csaba, Ördög Balázs and 13 more
Genes: CCKBR, CCK
Synonymous Virus Genome Recoding as a Tool to Impact Viral Fitness.
Trends in microbiology | 2016-02-01 | PMID 26646373
Martínez Miguel Angel, Jordan-Paiz Ana, Franco Sandra and 1 more
Platelet-Derived Growth Factor Receptor-β Regulates Vascular Smooth Muscle Cell Phenotypic Transformation and Neuroinflammation After Intracerebral Hemorrhage in Mice.
Critical care medicine | 2016-06-01 | PMID 26646459
Yang Peng, Wu Jiang, Miao Liyan and 10 more
Identification of Multiple Phytotoxins Produced by Fusarium virguliforme Including a Phytotoxic Effector (FvNIS1) Associated With Sudden Death Syndrome Foliar Symptoms.
Molecular plant-microbe interactions : MPMI | 2016-02-01 | PMID 26646532
Chang Hao-Xun, Domier Leslie L, Radwan Osman and 3 more
Genes: SDS
TNF-α and MTHFR Polymorphisms Associated with Cerebral Palsy in Chinese Infants.
Molecular neurobiology | 2016-12-01 | PMID 26646537
Hou Ruiying, Ren Xiuyu, Wang Juan and 1 more
Genes: TNF, MTHFR
SVCT2 Overexpression in Neuroblastoma Cells Induces Cellular Branching that is Associated with ERK Signaling.
Molecular neurobiology | 2016-12-01 | PMID 26646539
Salazar Katterine, Martínez Milka, Ulloa Viviana and 6 more
Genes: MAP2
Mthfr as a modifier of the retinal phenotype of Crb1(rd8/rd8) mice.
Experimental eye research | 2016-04-01 | PMID 26646559
Markand Shanu, Saul Alan, Tawfik Amany and 3 more
Genes: CRB1, MTHFR, ERG
Combinations of FUT2 gene polymorphisms and environmental factors are associated with oral cancer risk.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2016-05-01 | PMID 26646561
Su Kuo-Jung, Ho Chuan-Chen, Lin Chiao-Wen and 4 more
Genes: FUT2
Influence of a single-nucleotide polymorphism of the DNA mismatch repair-related gene exonuclease-1 (rs9350) with prostate cancer risk among Chinese people.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2016-05-01 | PMID 26646562
Zhang Yiming, Li Pengju, Xu Abai and 16 more
Genes: EXO1
Nutrient deprivation-related OXPHOS/glycolysis interconversion via HIF-1α/C-MYC pathway in U251 cells.
Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine | 2016-05-01 | PMID 26646563
Liu Zhongjian, Sun Yang, Tan Shirui and 6 more
Genes: MYC, NDUFA9, NDUFB8, NRF1, TFAM, VDAC1
RAS-MAPK pathway epigenetic activation in cancer: miRNAs in action.
Oncotarget | 2016-06-21 | PMID 26646588
Masliah-Planchon Julien, Garinet Simon, Pasmant Eric
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Pediatrics international : official journal of the Japan Pediatric Society | 2016-02-01 | PMID 26646600
Kosho Tomoki
Genes: CHST14
Clinical and laboratory correlates of lung disease and cancer in adults with idiopathic hypogammaglobulinaemia.
Clinical and experimental immunology | 2016-04-01 | PMID 26646609
Brent J, Guzman D, Bangs C and 14 more
Emerging roles of ATRX in cancer.
Epigenomics | 2015-01-01 | PMID 26646632
Watson L Ashley, Goldberg Hannah, Bérubé Nathalie G
Genes: ATRX
Biophysical aspect of phosphatidylinositol 3-kinase and role of oncogenic mutants (E542K & E545K).
Journal of biomolecular structure & dynamics | 2016-12-01 | PMID 26646651
Kalsi Namrata, Gopalakrishnan Chandrasekhar, Rajendran Vidya and 1 more
Overexpression of wildtype EGFR is tumorigenic and denotes a therapeutic target in non-small cell lung cancer.
Oncotarget | 2016-01-26 | PMID 26646697
Xu Naiqing, Fang Wenfeng, Mu Libing and 12 more
Genes: EGFR
TP53 mutational status is predictive of pazopanib response in advanced sarcomas.
Annals of oncology : official journal of the European Society for Medical Oncology | 2016-03-01 | PMID 26646755
Koehler K, Liebner D, Chen J L
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
Pediatric dermatology | 2000-01-01 | PMID 26646773
Noguera-Morel Lucero, Feito-Rodríguez Marta, Maldonado-Cid Paola and 6 more
Genes: ALOXE3, TGM1
CADASIL: MRI may be normal in the fourth decade of life - a case report.
Cephalalgia : an international journal of headache | 2016-10-01 | PMID 26646783
Samões Raquel, Alves José Eduardo, Taipa Ricardo and 3 more
Genes: NOTCH3
Familial limb pain and migraine: 8-year follow-up of four generations.
Cephalalgia : an international journal of headache | 2016-10-01 | PMID 26646786
Angus-Leppan Heather, Guiloff Roberto J
Involvement of astrocyte and oligodendrocyte gene sets in migraine.
Cephalalgia : an international journal of headache | 2016-06-01 | PMID 26646788
Eising Else, de Leeuw Christiaan, Min Josine L and 12 more
Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor.
Oncotarget | 2016-01-12 | PMID 26646792
Fahiminiya Somayyeh, Witkowski Leora, Nadaf Javad and 12 more
Genes: SMARCA4, SMARCB1
Longer genotypically-estimated leukocyte telomere length is associated with increased adult glioma risk.
Oncotarget | 2015-12-15 | PMID 26646793
Walsh Kyle M, Codd Veryan, Rice Terri and 20 more
Genes: CTC1, TERT
Integration Analysis of Three Omics Data Using Penalized Regression Methods: An Application to Bladder Cancer.
PLoS genetics | 2015-12-01 | PMID 26646822
Pineda Silvia, Real Francisco X, Kogevinas Manolis and 4 more
Ungulate copiparvovirus 1 (bovine parvovirus 2): characterization of a new genotype and associated viremia in different bovine age groups.
Virus genes | 2016-02-01 | PMID 26646894
Cibulski Samuel Paulo, Teixeira Thais Fumaco, Dos Santos Helton Fernandes and 8 more
The impact of genetic variation and cigarette smoke on DNA methylation in current and former smokers from the COPDGene study.
Epigenetics | 2015-01-01 | PMID 26646902
Qiu Weiliang, Wan Emily, Morrow Jarrett and 4 more
Association of MicroRNAs and YRNAs With Platelet Function.
Circulation research | 2016-02-05 | PMID 26646931
Kaudewitz Dorothee, Skroblin Philipp, Bender Lukas H and 21 more
Genes: ADAM9
Multi-omic profiles of human non-alcoholic fatty liver disease tissue highlight heterogenic phenotypes.
Scientific data | 2015-12-08 | PMID 26646939
Wruck Wasco, Kashofer Karl, Rehman Samrina and 14 more
Genes: APOC3, NCAN, PNPLA3
Beninese children with cerebral malaria do not develop humoral immunity against the IT4-VAR19-DC8 PfEMP1 variant linked to EPCR and brain endothelial binding.
Malaria journal | 2015-12-08 | PMID 26646943
Nunes-Silva Sofia, Dechavanne Sébastien, Moussiliou Azizath and 7 more
Genes: NTS
[Ovarian cancer is in many ways a heterogeneous disease].
Lakartidningen | 2015-12-08 | PMID 26646956
Malander Susanne, Hjerpe Elisabet, Carlson Joseph and 1 more
Acquired uniparental disomy of chromosome 9p in hematologic malignancies.
Experimental hematology | 2016-08-01 | PMID 26646991
Wang Linghua, Wheeler David A, Prchal Josef T
The Population Origins and Expansion of Feral Cats in Australia.
The Journal of heredity | 2016-03-01 | PMID 26647063
Spencer Peter B S, Yurchenko Andrey A, David Victor A and 5 more
Functional advantage of educated KIR2DL1(+) natural killer cells for anti-HIV-1 antibody-dependent activation.
Clinical and experimental immunology | 2016-04-01 | PMID 26647083
Gooneratne S L, Center R J, Kent S J and 1 more
Genes: CCR5
Triplication of 16p12.1p12.3 associated with developmental and growth delay and distinctive facial features.
American journal of medical genetics. Part A | 2016-03-01 | PMID 26647099
Nimmo Graeme A M, Guerin Andrea, Badilla-Porras Ramses and 3 more
Macrocalcitonin Is a Novel Pitfall in the Routine of Serum Calcitonin Immunoassay.
The Journal of clinical endocrinology and metabolism | 2016-02-01 | PMID 26647152
Alves Thalita G, Kasamatsu Teresa S, Yang Ji H and 9 more
Successful Live Birth in a Woman With 17α-Hydroxylase Deficiency Through IVF Frozen-Thawed Embryo Transfer.
The Journal of clinical endocrinology and metabolism | 2016-02-01 | PMID 26647153
Bianchi Paulo Homem de Mello, Gouveia Gabriela Romanenghi Fanti Carvalho Araujo, Costa Elaine M Frade and 11 more
Molecular correlates of fat mass expansion in C57BL/6J mice after short-term exposure to dietary fat.
Annals of the New York Academy of Sciences | 2016-01-01 | PMID 26647164
Anunciado-Koza Rea P, Manuel Justin, Koza Robert A
Genes: KLF14, MEST
An Immunogenetic Signature of Ongoing Antigen Interactions in Splenic Marginal Zone Lymphoma Expressing IGHV1-2*04 Receptors.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2016-04-15 | PMID 26647217
Bikos Vasilis, Karypidou Maria, Stalika Evangelia and 26 more
Genetic Landscapes of Relapsed and Refractory Diffuse Large B-Cell Lymphomas.
Clinical cancer research : an official journal of the American Association for Cancer Research | 2016-05-01 | PMID 26647218
Morin Ryan D, Assouline Sarit, Alcaide Miguel and 29 more
Genes: STAT6, NFKBIZ, CCND3, FOXO1, MYD88, NFKBIE
RPD3 histone deacetylase and nutrition have distinct but interacting effects on Drosophila longevity.
Aging | 2015-12-01 | PMID 26647291
Frankel Stewart, Woods Jared, Ziafazeli Tahereh and 1 more
High-density genetic map construction and gene mapping of pericarp color in wax gourd using specific-locus amplified fragment (SLAF) sequencing.
BMC genomics | 2015-12-09 | PMID 26647294
Jiang Biao, Liu Wenrui, Xie Dasen and 4 more
Escape from Lethal Bacterial Competition through Coupled Activation of Antibiotic Resistance and a Mobilized Subpopulation.
PLoS genetics | 2015-12-01 | PMID 26647299
Stubbendieck Reed M, Straight Paul D
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Human molecular genetics | 2016-02-01 | PMID 26647310
Jiang Pingping, Jin Xiaofen, Peng Yanyan and 16 more
Genes: YARS2
The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.
Human molecular genetics | 2016-02-01 | PMID 26647311
Brown Kyla, Selfridge Jim, Lagger Sabine and 8 more
Genes: MECP2
De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.
Human molecular genetics | 2016-02-01 | PMID 26647312
Srivastava Anshika, Ritesh K C, Tsan Yao-Chang and 8 more
Genes: ASXL3, BAP1
Aberrant disulphide bonding contributes to the ER retention of alpha1-antitrypsin deficiency variants.
Human molecular genetics | 2016-02-15 | PMID 26647313
Ronzoni Riccardo, Berardelli Romina, Medicina Daniela and 3 more
Childhood wheezing phenotypes influence asthma, lung function and exhaled nitric oxide fraction in adolescence.
The European respiratory journal | 2016-02-01 | PMID 26647439
Duijts Liesbeth, Granell Raquel, Sterne Jonathan A C and 1 more
Oestradiol metabolism and androgen receptor genotypes are associated with right ventricular function.
The European respiratory journal | 2016-02-01 | PMID 26647441
Ventetuolo Corey E, Mitra Nandita, Wan Fei and 8 more
Accuracy of diagnostic testing in primary ciliary dyskinesia.
The European respiratory journal | 2016-03-01 | PMID 26647444
Jackson Claire L, Behan Laura, Collins Samuel A and 12 more
Sequencing of lariat termini in S. cerevisiae reveals 5' splice sites, branch points, and novel splicing events.
RNA (New York, N.Y.) | 2016-02-01 | PMID 26647463
Qin Daoming, Huang Lei, Wlodaver Alissa and 2 more
[Subtype analysis and clinical significance of HPV infection in laryngeal squamous cell carcinoma and precancerous lesions].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery | 2015-09-01 | PMID 26647542
Guan Linlin, Sun Na, Sun Guangbin and 4 more
[Advance on genetic mechanism of adolescent idiopathic scoliosis and genetic relationship map].
Zhongguo gu shang = China journal of orthopaedics and traumatology | 2015-09-01 | PMID 26647570
Wang Wei, Ma Jun, Li Shu-yuan and 4 more
Genes: ESR1, ESR2, IGF1, TGFB1, VDR