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1. Full Text Convergent lines of evidence support CAMKK2 as a schizophrenia susceptibility gene
by Luo, X.-J and Li, M and Huang, L and Steinberg, S and Mattheisen, M and Liang, G and Donohoe, G and Shi, Y and Chen, C and Yue, W and Alkelai, A and Lerer, B and Li, Z and Yi, Q and Rietschel, M and Cichon, S and Collier, D.A and Tosato, S and Suvisaari, J and Rujescu, Dan and Golimbet, V and Silagadze, T and Durmishi, N and Milovancevic, M.P and Stefansson, H and Schulze, T.G and Nöthen, M.M and Chen, C and Lyne, R and Morris, D.W and Gill, M and Corvin, A and Zhang, D and Dong, Q and Moyzis, R.K and Stefansson, K and Sigurdsson, E and Hu, F and SCZ Consortium36, Consortium36 and Su, B and Gan, L and MooDs SCZ Consortium and MooDS SCZ Consortium
Molecular Psychiatry, ISSN 1359-4184, 2014, Volume 19, Issue 7, pp. 774 - 783
Genes that are differentially expressed between schizophrenia patients and healthy controls may have key roles in the pathogenesis of schizophrenia. We... 
association | protein-protein interaction | expression | eQTL | schizophrenia | CAMKK2 | COMMON VARIANTS | LONG-TERM-MEMORY | CELL-DEVELOPMENT | PSYCHIATRY | BIOCHEMISTRY & MOLECULAR BIOLOGY | CANDIDATE GENES | BIPOLAR DISORDER | NEUROSCIENCES | CONFERRING RISK | PREFRONTAL CORTEX | FUNCTIONAL GENOMICS | MOLECULAR-CLONING | GENOME-WIDE ASSOCIATION | European Continental Ancestry Group - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | Down-Regulation | Humans | Asian Continental Ancestry Group - genetics | Databases, Genetic | Genotype | Personality - genetics | Cognition | Schizophrenic Psychology | Calcium-Calmodulin-Dependent Protein Kinase Kinase - genetics | Case-Control Studies | Brain - metabolism | Schizophrenia - genetics | Protein Interaction Maps - genetics | Alleles | Calcium-Calmodulin-Dependent Protein Kinase Kinase - metabolism | Polymorphism, Single Nucleotide - genetics | Schizophrenia | Genetic research | Genetic aspects | Disease susceptibility | Research | Gene expression | Risk factors
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2. Full Text Translocation-associated Salivary Gland Tumors: A Review and Update
by Weinreb, Ilan
Advances In Anatomic Pathology, ISSN 1072-4109, 11/2013, Volume 20, Issue 6, pp. 367 - 377
In recent years the discovery of translocations and the fusion oncogenes that they result in has changed the way diagnoses are made in the salivary gland.... 
hyalinizing clear cell carcinoma | pleomorphic adenoma | translocation | mammary analog secretory carcinoma | adenoid cystic carcinoma | mucoepidermoid carcinoma | CRTCI/MAML2 FUSION TRANSCRIPT | IN-SITU HYBRIDIZATION | MYB EXPRESSION | PATHOLOGY | CLEAR-CELL-CARCINOMA | SOFT-TISSUE | PLEOMORPHIC ADENOMAS | ANALOG SECRETORY CARCINOMA | NFIB GENE FUSION | Adenoma, Pleomorphic - genetics | RNA-Binding Proteins - genetics | Translocation, Genetic | Proto-Oncogene Proteins c-ets - genetics | Salivary Gland Neoplasms - genetics | Humans | NFI Transcription Factors - genetics | Carcinoma, Mucoepidermoid - genetics | Receptor, trkC - genetics | Carcinoma - pathology | Nuclear Proteins - genetics | Activating Transcription Factor 1 - genetics | Calmodulin-Binding Proteins - genetics | Carcinoma, Adenoid Cystic - pathology | Repressor Proteins - genetics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Carcinoma, Mucoepidermoid - pathology | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Carcinoma, Adenoid Cystic - genetics | Oncogene Proteins, Fusion - genetics | Adenoma, Pleomorphic - pathology | Carcinoma - genetics | Oncogene Proteins v-myb - genetics | Adenocarcinoma, Clear Cell - pathology | Salivary Gland Neoplasms - pathology | Adenocarcinoma, Clear Cell - genetics | RNA-Binding Protein EWS
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3. Full Text Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population
by Gamboa-Meléndez, Marco Alberto and Huerta-Chagoya, Alicia and Moreno-Macías, Hortensia and Vázquez-Cárdenas, Paola and Ordóñez-Sánchez, María Luisa and Rodríguez-Guillén, Rosario and Riba, Laura and Rodríguez-Torres, Maribel and Guerra-García, María Teresa and Guillén-Pineda, Luz Elizabeth and Choudhry, Shweta and Del Bosque-Plata, Laura and Canizales-Quinteros, Samuel and Pérez-Ortiz, Gustavo and Escobedo-Aguirre, Fernando and Parra, Adalberto and Lerman-Garber, Israel and Aguilar-Salinas, Carlos Alberto and Tusié-Luna, María Teresa
Diabetes, ISSN 0012-1797, 12/2012, Volume 61, Issue 12, pp. 3314 - 3321
Several studies have identified nearly 40 different type 2 diabetes susceptibility loci, mainly in European populations, but few of them have been evaluated in... 
SAMPLE | MULTILOCUS GENOTYPE DATA | REPLICATION | VARIANTS | TCF7L2 POLYMORPHISMS | SUSCEPTIBILITY | ENDOCRINOLOGY & METABOLISM | LOCI | CANDIDATE GENE | MELLITUS | GENOME-WIDE ASSOCIATION | RNA-Binding Proteins - genetics | Calcium-Calmodulin-Dependent Protein Kinase Type 1 - genetics | Genetic Predisposition to Disease - genetics | Genome-Wide Association Study | KCNQ1 Potassium Channel - genetics | Transcription Factor 7-Like 2 Protein - genetics | Zinc Transporter 8 | Diabetes Mellitus, Type 2 - genetics | Humans | Middle Aged | Genotype | Male | Transcription Factors - genetics | Homeodomain Proteins - genetics | Cyclin-Dependent Kinase 5 - genetics | Cyclin-Dependent Kinase Inhibitor p15 - genetics | tRNA Methyltransferases | Polymorphism, Single Nucleotide - genetics | Cation Transport Proteins - genetics | Female | Mexico | Type 2 diabetes | Racially mixed people | Genetic variation | Mexicans | Genetic aspects | Health aspects | Risk factors | Metabolomics | Genetics | Genomes | Proteomics
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4. Full Text The genomic basis of circadian and circalunar timing adaptations in a midge
by Kaiser, Tobias S and Poehn, Birgit and Szkiba, David and Preussner, Marco and Sedlazeck, Fritz J and Zrim, Alexander and Neumann, Tobias and Nguyen, Lam-Tung and Betancourt, Andrea J and Hummel, Thomas and Vogel, Heiko and Dorner, Silke and Heyd, Florian and Von Haeseler, Arndt and Tessmar-Raible, Kristin
Nature, ISSN 0028-0836, 12/2016, Volume 540, Issue 7631, pp. 69 - 73
Organisms use endogenous clocks to anticipate regular environmental cycles, such as days and tides. Natural variants resulting in differently timed behaviour... 
CAMKII | DIPTERA | CREB-BINDING PROTEIN | GENE | DROSOPHILA-MELANOGASTER | MULTIDISCIPLINARY SCIENCES | TEMPERATURE COMPENSATION | POPULATIONS | WIDE ASSOCIATION | CLUNIO-MARINUS | CLOCK | Chironomidae - genetics | Species Specificity | Moon | Genomics | Reproduction - physiology | Male | CLOCK Proteins - genetics | Circadian Clocks - genetics | Drosophila melanogaster - genetics | Genetic Variation | Time Factors | Transcription, Genetic | Calcium-Calmodulin-Dependent Protein Kinase Type 2 - metabolism | Tidal Waves | Genetic Association Studies | Alternative Splicing - genetics | Circadian Rhythm - genetics | Genome, Insect - genetics | Reproduction - genetics | Calcium-Calmodulin-Dependent Protein Kinase Type 2 - genetics | Chironomidae - physiology | Phenotype | Animals | Drosophila melanogaster - enzymology | Acclimatization - genetics | Chironomidae - classification | Quantitative Trait Loci - genetics | Circadian rhythms | Physiological aspects | Genetic aspects | Adaptation (Physiology) | Chironomids | Proteins | Studies | Genes | Genomes | Circadian rhythm | Chromosomes | Biological clocks | Adaptation
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5. Full Text Whole-genome landscape of pancreatic neuroendocrine tumours
by Scarpa, Aldo and Chang, David K and Nones, Katia and Corbo, Vincenzo and Patch, Ann-Marie and Bailey, Peter and Lawlor, Rita T and Johns, Amber L and Miller, David K and Mafficini, Andrea and Rusev, Borislav and Scardoni, Maria and Antonello, Davide and Barbi, Stefano and Sikora, Katarzyna O and Cingarlini, Sara and Vicentini, Caterina and McKay, Skye and Quinn, Michael C.J and Bruxner, Timothy J.C and Christ, Angelika N and Harliwong, Ivon and Idrisoglu, Senel and McLean, Suzanne and Nourse, Craig and Nourbakhsh, Ehsan and Wilson, Peter J and Anderson, Matthew J and Fink, J. Lynn and Newell, Felicity and Waddell, Nick and Holmes, Oliver and Kazakoff, Stephen H and Leonard, Conrad and Wood, Scott and Xu, Qinying and Nagaraj, Shivashankar Hiriyur and Amato, Eliana and Dalai, Irene and Bersani, Samantha and Cataldo, Ivana and Dei Tos, Angelo P and Capelli, Paola and Davì, Maria Vittoria and Landoni, Luca and Malpaga, Anna and Miotto, Marco and Whitehall, Vicki L.J and Leggett, Barbara A and Harris, Janelle L and Harris, Jonathan and Jones, Marc D and Humphris, Jeremy and Chantrill, Lorraine A and Chin, Venessa and Nagrial, Adnan M and Pajic, Marina and Scarlett, Christopher J and Pinho, Andreia and Rooman, Ilse and Toon, Christopher and Wu, Jianmin and Pinese, Mark and Cowley, Mark and Barbour, Andrew and Mawson, Amanda and Humphrey, Emily S and Colvin, Emily K and Chou, Angela and Lovell, Jessica A and Jamieson, Nigel B and Duthie, Fraser and Gingras, Marie-Claude and Fisher, William E and Dagg, Rebecca A and Lau, Loretta M.S and Lee, Michael and Pickett, Hilda A and Reddel, Roger R and Samra, Jaswinder S and Kench, James G and Merrett, Neil D and Epari, Krishna and Nguyen, Nam Q and Zeps, Nikolajs and Falconi, Massimo and Simbolo, Michele and Butturini, Giovanni and Van Buren, George and Partelli, Stefano and Fassan, Matteo and Khanna, Kum Kum and Gill, Anthony J and Wheeler, David A and Gibbs, Richard A and Musgrove, Elizabeth A and Bassi, Claudio and Tortora, Giampaolo and Pederzoli, Paolo and Pearson, John V and ... and Australian Pancreatic Canc Genome and Australian Pancreatic Cancer Genome Initiative
Nature, ISSN 0028-0836, 03/2017, Volume 543, Issue 7643, pp. 65 - 71
The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges... 
MOLECULAR SUBTYPES | MUTATIONAL PROCESSES | TRANSLOCATION | SUPPRESSOR | PROTEIN | PATHWAY GENES | MULTIDISCIPLINARY SCIENCES | MTOR PATHWAY | TP53 MUTATIONS | CANCER | EWING SARCOMA | Calmodulin-Binding Proteins - genetics | RNA-Binding Proteins - genetics | TOR Serine-Threonine Kinases - metabolism | Genomics | Humans | DNA Glycosylases - genetics | Carcinoma, Neuroendocrine - genetics | Chromatin Assembly and Disassembly - genetics | Male | Pancreatic Neoplasms - genetics | DNA Copy Number Variations - genetics | DNA Repair - genetics | Germ-Line Mutation - genetics | Genome, Human - genetics | DNA Mutational Analysis | Base Sequence | Chromosome Aberrations | Female | Telomere - metabolism | RNA-Binding Protein EWS | Telomere - genetics | Genetic aspects | Nucleotide sequencing | Pancreatic cancer | Methods | DNA sequencing | Genes | Biomarkers | Genomes | Mutation | Signatures | Patients | Tumors | Index Medicus
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6. Full Text shRNA-Based Screen Identifies Endocytic Recycling Pathway Components That Act as Genetic Modifiers of Alpha-Synuclein Aggregation, Secretion and Toxicity
by Gonçalves, Susana A and Macedo, Diana and Raquel, Helena and Simões, Pedro D and Giorgini, Flaviano and Ramalho, José S and Barral, Duarte C and Ferreira Moita, Luís and Outeiro, Tiago Fleming
PLoS Genetics, ISSN 1553-7390, 04/2016, Volume 12, Issue 4, pp. e1005995 - e1005995
Alpha-Synuclein (aSyn) misfolding and aggregation is common in several neurodegenerative diseases, including Parkinson's disease and dementia with Lewy bodies,... 
IN-VITRO | RAB | TRANSMISSION | MEMBRANE-BINDING | INCLUSIONS | PHOSPHORYLATION | MUTATION | GENETICS & HEREDITY | PROTEINS | LEWY BODIES | PARKINSONS-DISEASE | Cell Line | Oncogene Proteins - genetics | RNA, Small Interfering - genetics | Calcium-Calmodulin-Dependent Protein Kinase Type 1 - genetics | Membrane Proteins - genetics | Humans | Protein-Serine-Threonine Kinases - genetics | rab GTP-Binding Proteins - genetics | alpha-Synuclein - secretion | Parkinson Disease - genetics | DNA-Binding Proteins - genetics | rab GTP-Binding Proteins - biosynthesis | Protein Folding | Protein Transport - genetics | Carrier Proteins - genetics | Lewy Body Disease - genetics | Protein-Tyrosine Kinases - genetics | RNA Interference | Protein Aggregates - genetics | alpha-Synuclein - genetics | alpha-Synuclein - metabolism | RNA sequencing | Genetic aspects | Parkinson's disease | Methods | Oligomers | Epidemiology | Nervous system diseases | Proteins | Pathology | Signal transduction | Microscopy | Toxicity | Neurodegeneration | Funding | Parkinsons disease | Kinases | Dementia | Index Medicus
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7. Full Text Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations
by Fahim, Abigail T and Bowne, Sara J and Sullivan, Lori S and Webb, Kaylie D and Williams, Jessica T and Wheaton, Dianna K and Birch, David G and Daiger, Stephen P
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 8, p. e23021
Mutations in RPGR account for over 70% of X-linked retinitis pigmentosa (XlRP), characterized by retinal degeneration and eventual blindness. The clinical... 
JOUBERT-SYNDROME | RETINAL DEGENERATION | LEBER CONGENITAL AMAUROSIS | CONE-ROD DYSTROPHY | VISUAL FUNCTION | EXON ORF15 | FAMILIES | MULTIDISCIPLINARY SCIENCES | MECKEL-SYNDROME | MISSENSE MUTATION | CENTROSOMAL PROTEIN | Haplotypes | Humans | Genetic Variation | DNA Mutational Analysis | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Neoplasm Proteins - genetics | Calmodulin-Binding Proteins - genetics | Severity of Illness Index | Antigens, Neoplasm - genetics | Genetic Predisposition to Disease - genetics | Retinitis Pigmentosa - genetics | Genotype | Genetic Heterogeneity | Proteins - genetics | Phenotype | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Alleles | Genetic Diseases, X-Linked - pathology | Polymorphism, Single Nucleotide | Genes, Modifier - genetics | Mutation | Retinitis Pigmentosa - pathology | Cohort Studies | Proteins | Retinitis pigmentosa | Genes | Blindness | Amino acids | Family | Genetic aspects | Single nucleotide polymorphisms | Exons | Science | Retina | Single-nucleotide polymorphism | Males | Defects | Genotype & phenotype | Heterogeneity | Genetics | Degeneration | Genetic factors | Public health | Genetic diversity | Patients | Bands | Retinal degeneration | Photoreceptors | Retinitis | Females
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8. Full Text Polarity gene alterations in pure invasive micropapillary carcinomas of the breast
by Gruel, Nadège and Benhamo, Vanessa and Bhalshankar, Jaydutt and Popova, Tatiana and Fréneaux, Paul and Arnould, Laurent and Mariani, Odette and Stern, Marc-Henri and Raynal, Virginie and Sastre-Garau, Xavier and Rouzier, Roman and Delattre, Olivier and Vincent-Salomon, Anne
Breast Cancer Research, ISSN 1465-5411, 05/2014, Volume 16, Issue 3, pp. R46 - R46
Introduction: Pure invasive micropapillary carcinoma (IMPC) is a special type of breast carcinoma characterised by clusters of cells presenting polarity... 
PATHWAYS | TRANSCRIPTS | ONCOLOGY | SUBTYPES | CLASSIFICATION | COMPARATIVE GENOMIC HYBRIDIZATION | CANCER | TUMORS | MUTATIONAL EVOLUTION | DISCOVERY | FEATURES | Carcinoma, Ductal, Breast - genetics | Cytoskeletal Proteins - genetics | Humans | Axonemal Dyneins - genetics | Serine C-Palmitoyltransferase - genetics | Mutation, Missense | Tumor Suppressor Protein p53 - genetics | DNA Copy Number Variations | Group II Chaperonins - genetics | Nuclear Proteins - biosynthesis | Base Sequence | Protein Tyrosine Phosphatases, Non-Receptor - genetics | Carcinoma, Ductal, Breast - pathology | Female | Retrospective Studies | Neoplasm Proteins - genetics | Breast - pathology | Calmodulin-Binding Proteins - genetics | Forkhead Transcription Factors - biosynthesis | Receptor, ErbB-2 - biosynthesis | Membrane Proteins - genetics | Forkhead Transcription Factors - genetics | Sequence Analysis, DNA | Membrane Glycoproteins - genetics | Phosphatidylinositol 3-Kinases - genetics | Cell Polarity - genetics | Exome - genetics | Membrane Proteins - biosynthesis | Microfilament Proteins - biosynthesis | Breast Neoplasms - genetics | Class I Phosphatidylinositol 3-Kinases | Sequence Analysis, RNA | Breast Neoplasms - pathology | Receptors, Estrogen - biosynthesis | Gene Amplification - genetics | Forkhead Box Protein O3 | Neoplasm Invasiveness - genetics | Sequence Deletion - genetics | RNA sequencing | Breast cancer | Genetic aspects | Analysis
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9. Full Text Phenotypic spectrum of children with nephronophthisis and related ciliopathies
by König, Jens and Kranz, Birgitta and König, Sabine and Schlingmann, Karl Peter and Titieni, Andrea and Tönshoff, Burkhard and Habbig, Sandra and Pape, Lars and Häffner, Karsten and Hansen, Matthias and Büscher, Anja and Bald, Martin and Billing, Heiko and Schild, Raphael and Walden, Ulrike and Hampel, Tobias and Staude, Hagen and Riedl, Magdalena and Gretz, Norbert and Lablans, Martin and Bergmann, Carsten and Hildebrandt, Friedhelm and Omran, Heymut and Konrad, Martin and Gesell Padiat Nephrologie GPN and Gesellschaft für Pädiatrische Nephrologie (GPN)
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1974 - 1983
Background and objectives Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date,... 
Prevalence | Nephronophthisis related ciliopathy | Ciliopathies | Joubert-like syndromes | NEPHREG registry | Bardet-Biedl syndrome | Senior-Løken syndrome | Congenital oculomotor apraxia | Genetic heterogeneity | Kidney diseases, cystic | Homozygote | Kidney failure, chronic | Nephronophthisis (NPH) | Adolescent | Mainzer-Saldino syndrome | Registries | Mutation | COACH syndrome | Nephronophthisis, familial juvenile | Cross-Sectional studies | ADOLESCENT NEPHRONOPHTHISIS | JOUBERT-SYNDROME | FAMILIAL JUVENILE NEPHRONOPHTHISIS | SENIOR-LOKEN SYNDROME | CYSTIC KIDNEY-DISEASE | GENE | RENAL-FAILURE | UROLOGY & NEPHROLOGY | NPHP3 | MUTATIONS | DOMAIN PROTEIN | Polyuria - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Ciliopathies - complications | Nervous System Diseases - genetics | Young Adult | Ciliopathies - genetics | Anemia - genetics | Kidney - diagnostic imaging | Ultrasonography | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Female | Glomerular Filtration Rate - genetics | Neoplasm Proteins - genetics | Child | Calmodulin-Binding Proteins - genetics | Kidney Failure, Chronic - physiopathology | Antigens, Neoplasm - genetics | Cross-Sectional Studies | Membrane Proteins - genetics | Kidney Failure, Chronic - genetics | Proteins - genetics | Carrier Proteins - genetics | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Longitudinal Studies | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
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10. Full Text Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death
by Nyegaard, Mette and Overgaard, Michael T and Søndergaard, Mads T and Vranas, Marta and Behr, Elijah R and Hildebrandt, Lasse L and Lund, Jacob and Hedley, Paula L and Camm, A. John and Wettrell, Göran and Fosdal, Inger and Christiansen, Michael and Børglum, Anders D and Paediatrics (Lund) and Lund University and Lunds universitet and Pediatrik, Lund
The American Journal of Human Genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 703 - 712
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating inherited disorder characterized by episodic syncope and/or sudden cardiac arrest... 
DIAGNOSIS | COMPLEX | CHANNEL | CPVT | MAPS | RYANODINE RECEPTOR | CA2+ RELEASE | FAMILIES | GENETICS & HEREDITY | CALCIUM-BINDING | TOOL | Amino Acid Sequence | Calmodulin - genetics | Genetic Predisposition to Disease | Syncope - genetics | Humans | Child, Preschool | Molecular Sequence Data | Male | Death, Sudden, Cardiac - etiology | Mutation, Missense | Young Adult |