Biomedical publications with connected research

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome in Which a Different De Novo Actg2 Gene Mutation was Detected: A Case Report.

Fetal and pediatric pathology | 2018-04-01 | PMID 29608093

Korğalı Elif Ünver, Yavuz Amine, Şimşek Cemile Ece Çağlar and 6 more

Genes: ACTG2

Isolation of Dendritic Cells from the Human Female Reproductive Tract for Phenotypical and Functional Studies.

Journal of visualized experiments : JoVE | 2018-03-13 | PMID 29608161

Rodriguez-Garcia Marta, Fortier Jared M, Barr Fiona D and 1 more

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

Cancer medicine | 2018-05-01 | PMID 29608257

Painter Jodie N, O'Mara Tracy A, Morris Andrew P and 73 more

Genes: PTPRD, STAT3

Converting Insulin-like Growth Factors 1 and 2 into High-Affinity Ligands for Insulin Receptor Isoform A by the Introduction of an Evolutionarily Divergent Mutation.

Biochemistry | 2018-04-24 | PMID 29608283

Macháčková Kateřina, Chrudinová Martina, Radosavljević Jelena and 8 more

Age-Specific Association of CCL5 Gene Polymorphism with Pulmonary Tuberculosis: A Case-Control Study.

Genetic testing and molecular biomarkers | 2018-05-01 | PMID 29608337

Varzari Alexander, Tudor Elena, Bodrug Nina and 3 more

Genes: CCL5, CCL2, CXCL8

Deregulated TNF-Alpha Levels Along with HPV Genotype 16 Infection Are Associated with Pathogenesis of Cervical Neoplasia in Northeast Indian Patients.

Viral immunology | 2018-05-01 | PMID 29608425

Das Chandana Ray, Tiwari Diptika, Dongre Anita and 5 more

Genes: TNF

How to cope with food allergy symptoms?

Current opinion in allergy and clinical immunology | 2018-06-01 | PMID 29608467

Deschildre Antoine, Lejeune Stéphanie

Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 2019-03-01 | PMID 29608535

Kuehn Markus H, Mishra Rajashree, Deonovic Benjamin E and 5 more

Specter: linear deconvolution for targeted analysis of data-independent acquisition mass spectrometry proteomics.

Nature methods | 2018-05-01 | PMID 29608554

Peckner Ryan, Myers Samuel A, Jacome Alvaro Sebastian Vaca and 5 more

A high throughput, functional screen of human Body Mass Index GWAS loci using tissue-specific RNAi Drosophila melanogaster crosses.

PLoS genetics | 2018-04-01 | PMID 29608557

Baranski Thomas J, Kraja Aldi T, Fink Jill L and 7 more

Genes: ADPGK, ARIH1, CHST8, CLIP1, EHBP1, ELL, KAT8, KCTD15

High-throughput interaction screens illuminate the role of c-di-AMP in cyanobacterial nighttime survival.

PLoS genetics | 2018-04-01 | PMID 29608558

Rubin Benjamin E, Huynh TuAnh Ngoc, Welkie David G and 9 more

Molecular basis of hemoglobin adaptation in the high-flying bar-headed goose.

PLoS genetics | 2018-04-01 | PMID 29608560

Natarajan Chandrasekhar, Jendroszek Agnieszka, Kumar Amit and 4 more

Actin organization and endocytic trafficking are controlled by a network linking NIMA-related kinases to the CDC-42-SID-3/ACK1 pathway.

PLoS genetics | 2018-04-01 | PMID 29608564

Lažetić Vladimir, Joseph Braveen B, Bernazzani Sarina M and 1 more

Genes: CDC42, INVS, NEK6, NEK7, NEK8, NEK9

Natural allelic variation of the AZI1 gene controls root growth under zinc-limiting condition.

PLoS genetics | 2018-04-01 | PMID 29608565

Bouain Nadia, Satbhai Santosh B, Korte Arthur and 5 more

FIGL1 and its novel partner FLIP form a conserved complex that regulates homologous recombination.

PLoS genetics | 2018-04-01 | PMID 29608566

Fernandes Joiselle Blanche, Duhamel Marine, Seguéla-Arnaud Mathilde and 12 more

Genes: DMC1, RAD51

Expanding the toolbox for Trypanosoma cruzi: A parasite line incorporating a bioluminescence-fluorescence dual reporter and streamlined CRISPR/Cas9 functionality for rapid in vivo localisation and phenotyping.

PLoS neglected tropical diseases | 2018-04-01 | PMID 29608569

Costa Fernanda Cristina, Francisco Amanda Fortes, Jayawardhana Shiromani and 9 more

Genome-wide association mapping for eyespot disease in US Pacific Northwest winter wheat.

PloS one | 2018-01-01 | PMID 29608579

Lewien Megan J, Murray Timothy D, Jernigan Kendra L and 2 more

Specifically bound lambda repressor dimers promote adjacent non-specific binding.

PloS one | 2018-01-01 | PMID 29608611

Sarkar-Banerjee Suparna, Goyal Sachin, Gao Ning and 5 more

Genome-wide pleiotropy and shared biological pathways for resistance to bovine pathogens.

PloS one | 2018-01-01 | PMID 29608619

Mahmoud M, Zeng Y, Shirali M and 4 more

High density SNP mapping and QTL analysis for time of leaf budburst in Corylus avellana L.

PloS one | 2018-01-01 | PMID 29608620

Torello Marinoni Daniela, Valentini Nadia, Portis Ezio and 6 more

Genetic characterization of the oxytocin-neurophysin I gene (OXT) and its regulatory regions analysis in domestic Old and New World camelids.

PloS one | 2018-01-01 | PMID 29608621

Pauciullo Alfredo, Ogah Danlami Moses, Iannaccone Marco and 3 more

Genes: OXT

LSMM: a statistical approach to integrating functional annotations with genome-wide association studies.

Bioinformatics (Oxford, England) | 2018-08-15 | PMID 29608640

Ming Jingsi, Dai Mingwei, Cai Mingxuan and 3 more

Targeting Gpr52 lowers mutant HTT levels and rescues Huntington's disease-associated phenotypes.

Brain : a journal of neurology | 2018-06-01 | PMID 29608652

Song Haikun, Li Hexuan, Guo Shimeng and 15 more

Genes: HTT

pyNBS: a Python implementation for network-based stratification of tumor mutations.

Bioinformatics (Oxford, England) | 2018-08-15 | PMID 29608663

Huang Justin K, Jia Tongqiu, Carlin Daniel E and 1 more

Predictors of post-operative cardiovascular events, focused on atrial fibrillation, after valve surgery for primary mitral regurgitation.

European heart journal. Cardiovascular Imaging | 2019-02-01 | PMID 29608669

Pimor Anna, Galli Elena, Vitel Emilie and 4 more

Dolutegravir-based maintenance monotherapy versus dual therapy with lamivudine: a planned 24 week analysis of the DOLAM randomized clinical trial.

The Journal of antimicrobial chemotherapy | 2018-07-01 | PMID 29608685

Blanco Jose L, Rojas Jhon, Paredes Roger and 7 more

Genes: CD4

Loss of MicroRNA-21 Influences the Gut Microbiota, Causing Reduced Susceptibility in a Murine Model of Colitis.

Journal of Crohn's & colitis | 2018-06-28 | PMID 29608690

Johnston Daniel G W, Williams Michelle A, Thaiss Christoph A and 7 more

Divergent Evolutionary Trajectories of Two Young, Homomorphic, and Closely Related Sex Chromosome Systems.

Genome biology and evolution | 2018-03-01 | PMID 29608717

Furman Benjamin L S, Evans Ben J

Homologous Recombination between Genetically Divergent Campylobacter fetus Lineages Supports Host-Associated Speciation.

Genome biology and evolution | 2018-03-01 | PMID 29608720

Gilbert Maarten J, Duim Birgitta, van der Graaf-van Bloois Linda and 2 more

Comparative Serum Challenges Show Divergent Patterns of Gene Expression and Open Chromatin in Human and Chimpanzee.

Genome biology and evolution | 2018-03-01 | PMID 29608722

Pizzollo Jason, Nielsen William J, Shibata Yoichiro and 4 more

Signatures of Long-Term Balancing Selection in Human Genomes.

Genome biology and evolution | 2018-03-01 | PMID 29608730

Bitarello Bárbara D, de Filippo Cesare, Teixeira João C and 4 more

Structural and Functional Neuroimaging of Polygenic Risk for Schizophrenia: A Recall-by-Genotype-Based Approach.

Schizophrenia bulletin | 2019-03-07 | PMID 29608775

Lancaster Thomas M, Dimitriadis Stavros L, Tansey Katherine E and 12 more

Decreased Km to dNTPs is an essential M-MuLV reverse transcriptase adoption required to perform efficient cDNA synthesis in One-Step RT-PCR assay.

Protein engineering, design & selection : PEDS | 2018-03-01 | PMID 29608777

Palikša S, Alzbutas G, Skirgaila R

Integrated massively parallel sequencing of 15 autosomal STRs and Amelogenin using a simplified library preparation approach.

Electrophoresis | 2018-06-01 | PMID 29608791

Xue Jian, Wu Riga, Pan Yajiao and 9 more

Relationship between vitamin D receptor gene polymorphism and susceptibility to chronic kidney disease and periodontal disease in community-dwelling elderly.

Journal of clinical periodontology | 2018-06-01 | PMID 29608804

Yoshihara Akihiro, Kaneko Noboru, Iwasaki Masanori and 2 more

Genes: VDR

Identification of a PTEN mutation with reduced protein stability, phosphatase activity, and nuclear localization in Hong Kong patients with autistic features, neurodevelopmental delays, and macrocephaly.

Autism research : official journal of the International Society for Autism Research | 2018-08-01 | PMID 29608813

Wong Chi Wai, Or Penelope Mei Yu, Wang Yubing and 10 more

Genes: PTEN

Detection of Mutations in Barrett's Esophagus Before Progression to High-Grade Dysplasia or Adenocarcinoma.

Gastroenterology | 2018-07-01 | PMID 29608884

Stachler Matthew D, Camarda Nicholas D, Deitrick Christopher and 13 more

Genes: HGD

Harnessing the potential of epigenetic therapies for childhood acute myeloid leukemia.

Experimental hematology | 2018-07-01 | PMID 29608923

Newcombe Ashley A, Gibson Brenda E S, Keeshan Karen

Hybrid, randomized and high capacity conservative mutations DNA-based steganography for large sized data.

Bio Systems | 2018-05-01 | PMID 29608931

Hamed Ghada, Marey Mohammed, Amin Safaa El-Sayed and 1 more

Comparative analysis of rhizobial chromosomes and plasmids to estimate their evolutionary relationships.

Plasmid | 2000-01-01 | PMID 29608935

Wang Xinye, Liu Dongying, Luo Yantao and 5 more

Detection and validation of EST-SSR markers associated with sugar-related traits in sugarcane using linkage and association mapping.

Genomics | 2019-01-01 | PMID 29608956

Ukoskit Kittipat, Posudsavang Ganlayarat, Pongsiripat Nattapat and 4 more

Genetic diversity analysis of Blastocystis subtypes from both symptomatic and asymptomatic subjects using a barcoding region from the 18S rRNA gene.

Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases | 2018-07-01 | PMID 29608961

Rezaei Riabi Tahereh, Mirjalali Hamed, Haghighi Ali and 6 more

Clinico-hematological profile and thrombotic/hemorrhagic events in 150 chinese patients with essential thrombocythemia.

Leukemia research | 2018-06-01 | PMID 29609040

Zhou Dian, Chen Wei, Cheng Hai and 4 more

Genes: JAK2

An efficient strategy for identifying cancer-related key genes based on graph entropy.

Computational biology and chemistry | 2018-06-01 | PMID 29609142

Zhang Wei, Wang Shu-Lin

IL1RN Variation Influences Both Disease Susceptibility and Response to Recombinant Human Interleukin-1 Receptor Antagonist Therapy in Systemic Juvenile Idiopathic Arthritis.

Arthritis & rheumatology (Hoboken, N.J.) | 2018-08-01 | PMID 29609200

Arthur Victoria L, Shuldiner Emily, Remmers Elaine F and 26 more

[Prenatal diagnosis of women with an adverse reproductive history using both traditional karyotyping and SNP-array].

Zhonghua fu chan ke za zhi | 2018-03-25 | PMID 29609228

Yu H S, Guo H, Shen S S and 3 more

[Characteristics of invisible cervical intraepithelial neoplasia Ⅲ under colposcopy].

Zhonghua fu chan ke za zhi | 2018-03-25 | PMID 29609231

Chen Q, Du H, Wang C and 2 more

[Investigation of a measles outbreak caused by genotype D8 virus in Pinghu city of Zhejiang province, 2017].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi | 2018-03-10 | PMID 29609249

Yan R, He B, Yao F Y and 4 more

[Progress in next-generation sequencing research of non-syndromic oral clefts].

Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi | 2018-03-10 | PMID 29609259

Wang M Y, Liu D J, Huang H and 5 more

A novel D90_K91insN mutation in exon 4 of the SOD1 gene caused familial amyotrophic lateral sclerosis in a Chinese pedigree.

Amyotrophic lateral sclerosis & frontotemporal degeneration | 2018-11-01 | PMID 29609497

Li Yanran, Sun Bo, Chen Siyu and 6 more

Genes: SOD1

The relationship between obesity and the severity of non-alcoholic fatty liver disease: systematic review and meta-analysis.

Expert review of gastroenterology & hepatology | 2018-05-01 | PMID 29609501

Lu Feng-Bin, Hu En-De, Xu Lan-Man and 5 more

Genes: PNPLA3

Association of polymorphism rs1053005 in STAT3 with chronic hepatitis B virus infection in Han Chinese population.

BMC medical genetics | 2018-04-02 | PMID 29609539

Li Man, Li Fang, Li Na and 7 more

Genes: STAT3

Relationship of cardiovascular disease risk factors and noncoding RNAs with hypertension: a case-control study.

BMC cardiovascular disorders | 2018-04-02 | PMID 29609545

Chen Shiying, Chen Rong, Zhang Tingxing and 5 more

A high-resolution genetic linkage map and QTL fine mapping for growth-related traits and sex in the Yangtze River common carp (Cyprinus carpio haematopterus).

BMC genomics | 2018-04-02 | PMID 29609551

Feng Xiu, Yu Xiaomu, Fu Beide and 4 more

Epigenetics and early domestication: differences in hypothalamic DNA methylation between red junglefowl divergently selected for high or low fear of humans.

Genetics, selection, evolution : GSE | 2018-04-02 | PMID 29609558

Bélteky Johan, Agnvall Beatrix, Bektic Lejla and 3 more

Including gene networks to predict calving difficulty in Holstein, Brown Swiss and Jersey cattle.

BMC genetics | 2018-04-02 | PMID 29609562

Tiezzi Francesco, Arceo Maria E, Cole John B and 1 more

The identification of H3F3A mutation in giant cell tumour of the clivus and the histological diagnostic algorithm of other clival lesions permit the differential diagnosis in this location.

BMC cancer | 2018-04-02 | PMID 29609578

Scotto di Carlo Federica, Divisato Giuseppina, Iacoangeli Maurizio and 2 more

Genes: IDH1, IDH2

Oxidative stress enhances tumorigenicity and stem-like features via the activation of the Wnt/β-catenin/MYC/Sox2 axis in ALK-positive anaplastic large-cell lymphoma.

BMC cancer | 2018-04-02 | PMID 29609590

Wu Chengsheng, Gupta Nidhi, Huang Yung-Hsing and 4 more

Genes: ALK, MYC, BCL9

Airway disease phenotypes in animal models of cystic fibrosis.

Respiratory research | 2018-04-02 | PMID 29609604

McCarron Alexandra, Donnelley Martin, Parsons David

High mitochondrial sequence divergence in synanthropic flea species (Insecta: Siphonaptera) from Europe and the Mediterranean.

Parasites & vectors | 2018-04-02 | PMID 29609620

Hornok Sándor, Beck Relja, Farkas Róbert and 13 more

16p11.2 microdeletion syndrome: a case report.

Journal of medical case reports | 2018-04-03 | PMID 29609622

Dell'Edera D, Dilucca C, Allegretti A and 4 more

Cross sectional study on prevalence of sickle cell alleles S and C among patients with mild malaria in Ivory Coast.

BMC research notes | 2018-04-02 | PMID 29609623

Tossea Stephane Koui, Adji Eric Gbessi, Coulibaly Baba and 6 more

CHRNA5 and CHRNA3 polymorphism and lung cancer susceptibility in Palestinian population.

BMC research notes | 2018-04-02 | PMID 29609626

Ayesh Basim Mohammad, Al-Masri Rami, Abed Abdalla Assaf

Genes: CHRNA3, CHRNA5

The truncated mutant HBsAg expression increases the tumorigenesis of hepatitis B virus by regulating TGF-β/Smad signaling pathway.

Virology journal | 2018-04-02 | PMID 29609638

Wang Meng-Lan, Wu Dong-Bo, Tao Ya-Chao and 4 more

Genes: TGFBI

A comprehensive characterization of myocardial and vascular phenotype in pediatric chronic kidney disease using cardiovascular magnetic resonance imaging.

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance | 2018-03-29 | PMID 29609642

Cheang Mun Hong, Barber Nathaniel J, Khushnood Abbas and 7 more

Host specificity of Enterocytozoon bieneusi genotypes in Bactrian camels (Camelus bactrianus) in China.

Parasites & vectors | 2018-04-02 | PMID 29609645

Qi Meng, Li Junqiang, Zhao Aiyun and 4 more

All-male hybrids of a tetrapod Pelophylax esculentus share its origin and genetics of maintenance.

Biology of sex differences | 2018-04-02 | PMID 29609661

Doležálková-Kaštánková Marie, Pruvost Nicolas B M, Plötner Jörg and 3 more

Efficacy of entecavir-based rescue therapy in lamivudine-resistant chronic hepatitis B patients in China: a retrospective study.

Die Pharmazie | 2018-04-02 | PMID 29609690

Li Wei, Wang Linhai, Liu Yanhong and 2 more

Sex differences in cholesterol levels from birth to 19 years of age may lead to increased cholesterol burden in females with FH.

Journal of clinical lipidology | 2000-01-01 | PMID 29609857

Holven Kirsten B, Narverud Ingunn, van Lennep Jeanine Roeters and 8 more

Genetic variants in selenoprotein genes modulate biomarkers of selenium status in response to Brazil nut supplementation (the SU.BRA.NUT study).

Clinical nutrition (Edinburgh, Scotland) | 2019-04-01 | PMID 29609868

Donadio Janaina L S, Rogero Marcelo M, Guerra-Shinohara Elvira M and 6 more

Genes: GPX1, SELENOP, SELENOF, SELENOS, GPX4

African swine fever virus (ASFV) protection mediated by NH/P68 and NH/P68 recombinant live-attenuated viruses.

Vaccine | 2018-05-03 | PMID 29609966

Gallardo Carmina, Sánchez Elena G, Pérez-Núñez Daniel and 7 more

Evaluating the role of functional impairment in personality psychopathology.

Psychiatry research | 2018-12-01 | PMID 29609984

Boland Jennifer K, Damnjanovic Tatjana, Anderson Jaime L

Evolutionary Origins of Enteric Hepatitis Viruses.

Cold Spring Harbor perspectives in medicine | 2018-12-03 | PMID 29610146

Sander Anna-Lena, Corman Victor Max, Lukashev Alexander N and 1 more

HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion.

Pediatrics | 2018-04-01 | PMID 29610167

Kim Hyun, Chadwick Laura, Alzaidi Yasir and 3 more

Genes: DCX

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.

Pediatrics | 2018-04-01 | PMID 29610177

Campbell Jamie, FitzPatrick David R, Azam Tara and 4 more

Genes: NALCN

Proximal Hypospadias and a Novel WT1 Variant: When Should Genetic Testing Be Considered?

Pediatrics | 2018-04-01 | PMID 29610178

Dabrowski Elizabeth, Armstrong Amy E, Leeth Elizabeth and 4 more

Inherited Immunodeficiency: A New Association With Early-Onset Childhood Panniculitis.

Pediatrics | 2018-04-01 | PMID 29610179

Bader-Meunier Brigitte, Rieux-Laucat Frédéric, Touzot Fabien and 4 more

Genes: LCK, TRNT1

Unusual Presentations of Dystrophinopathies in Childhood.

Pediatrics | 2018-04-01 | PMID 29610182

Allen Nicholas M, Ewer Alice, Nakou Vasiliki and 4 more

Overexpression of the Efflux Pumps SmeVWX and SmeDEF Is a Major Cause of Resistance to Co-trimoxazole in Stenotrophomonas maltophilia.

Antimicrobial agents and chemotherapy | 2018-06-01 | PMID 29610195

Sánchez María Blanca, Martínez José Luis

Absence of Azole or Echinocandin Resistance in Candida glabrata Isolates in India despite Background Prevalence of Strains with Defects in the DNA Mismatch Repair Pathway.

Antimicrobial agents and chemotherapy | 2018-06-01 | PMID 29610199

Singh Ashutosh, Healey Kelley R, Yadav Priyanka and 7 more

Genes: MSH2

Tomatidine Is a Lead Antibiotic Molecule That Targets Staphylococcus aureus ATP Synthase Subunit C.

Antimicrobial agents and chemotherapy | 2018-06-01 | PMID 29610201

Lamontagne Boulet Maxime, Isabelle Charles, Guay Isabelle and 11 more

Evaluation of the Antifungal Activity of the Novel Oral Glucan Synthase Inhibitor SCY-078, Singly and in Combination, for the Treatment of Invasive Aspergillosis.

Antimicrobial agents and chemotherapy | 2018-06-01 | PMID 29610204

Ghannoum M, Long L, Larkin E L and 5 more

An SPX-RLI1 Module Regulates Leaf Inclination in Response to Phosphate Availability in Rice.

The Plant cell | 2018-04-01 | PMID 29610209

Ruan Wenyuan, Guo Meina, Xu Lei and 4 more

Genes: SPX, XPR1

Sequence-Based Analysis of Lipid-Related Metabolites in a Multiethnic Study.

Genetics | 2018-06-01 | PMID 29610217

Feofanova Elena V, Yu Bing, Metcalf Ginger A and 7 more

Genes: MAF, FADS2, FDX1, SCD

Hypervirulent Group A Streptococcus of Genotype emm3 Invades the Vascular System in Pulmonary Infection of Mice.

Infection and immunity | 2018-06-01 | PMID 29610254

Lei Benfang, Minor Dylan, Feng Wenchao and 1 more

Certhrax Is an Antivirulence Factor for the Anthrax-Like Organism Bacillus cereus Strain G9241.

Infection and immunity | 2018-06-01 | PMID 29610258

Seldina Yuliya I, Petro Courtney D, Servetas Stephanie L and 4 more

Cardiac Dysfunction and Metabolic Inflexibility in a Mouse Model of Diabetes Without Dyslipidemia.

Diabetes | 2018-06-01 | PMID 29610263

Rohm Maria, Savic Dragana, Ball Vicky and 7 more

Genes: PDK4, UCP3

Subcellular compartmentalization of proximal Gαq-receptor signaling produces unique hypertrophic phenotypes in adult cardiac myocytes.

The Journal of biological chemistry | 2018-06-08 | PMID 29610273

Dahl Erika F, Wu Steven C, Healy Chastity L and 3 more

Genes: HDAC5

H3K36me3-mediated mismatch repair preferentially protects actively transcribed genes from mutation.

The Journal of biological chemistry | 2018-05-18 | PMID 29610279

Huang Yaping, Gu Liya, Li Guo-Min

Advances on the BRAF Front in Colorectal Cancer.

Cancer discovery | 2018-04-01 | PMID 29610287

Janku Filip

Genes: BRAF, EGFR

E-Cadherin/ROS1 Inhibitor Synthetic Lethality in Breast Cancer.

Cancer discovery | 2018-04-01 | PMID 29610289

Bajrami Ilirjana, Marlow Rebecca, van de Ven Marieke and 28 more

Genes: ROS1, CDH1

Intron retention induced by microsatellite expansions as a disease biomarker.

Proceedings of the National Academy of Sciences of the United States of America | 2018-04-17 | PMID 29610297

Sznajder Łukasz J, Thomas James D, Carrell Ellie M and 11 more

Autochthonous tumors driven by Rb1 loss have an ongoing requirement for the RBP2 histone demethylase.

Proceedings of the National Academy of Sciences of the United States of America | 2018-04-17 | PMID 29610306

McBrayer Samuel K, Olenchock Benjamin A, DiNatale Gabriel J and 15 more

Genes: RBP2

Increased autophagy blocks HER2-mediated breast tumorigenesis.

Proceedings of the National Academy of Sciences of the United States of America | 2018-04-17 | PMID 29610308

Vega-Rubín-de-Celis Silvia, Zou Zhongju, Fernández Álvaro F and 5 more

Genes: BECN1

Human bony labyrinth is an indicator of population history and dispersal from Africa.

Proceedings of the National Academy of Sciences of the United States of America | 2018-04-17 | PMID 29610337

Ponce de León Marcia S, Koesbardiati Toetik, Weissmann John David and 7 more

Exome chip analyses identify genes affecting mortality after HLA-matched unrelated-donor blood and marrow transplantation.

Blood | 2018-05-31 | PMID 29610366

Zhu Qianqian, Yan Li, Liu Qian and 17 more

Genes: NT5E, ALPP, EMID1, HHAT, LRP1, LYZL4, OR51D1, SLC44A5

Exceptional response to everolimus in a novel tuberous sclerosis complex-2 mutation-associated metastatic renal-cell carcinoma.

Cold Spring Harbor molecular case studies | 2018-04-01 | PMID 29610387

Alsidawi Samer, Kasi Pashtoon Murtaza

Genes: TSC2

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

Cold Spring Harbor molecular case studies | 2018-04-01 | PMID 29610388

Schuh Anna, Dreau Helene, Knight Samantha J L and 22 more

Genomic profiling of dedifferentiated liposarcoma compared to matched well-differentiated liposarcoma reveals higher genomic complexity and a common origin.

Cold Spring Harbor molecular case studies | 2018-04-01 | PMID 29610390

Beird Hannah C, Wu Chia-Chin, Ingram Davis R and 13 more

Genes: CPM, HMGA2, CDK4, MDM2, YEATS2

Application of genomics to identify therapeutic targets in recurrent pediatric papillary thyroid carcinoma.

Cold Spring Harbor molecular case studies | 2018-04-01 | PMID 29610391

Ronsley Rebecca, Rassekh S Rod, Shen Yaoqing and 15 more

Genes: NTRK1, RET, TPM3