Articles

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (20736) 20736
Publication (2943) 2943
Newspaper Article (846) 846
Book Chapter (323) 323
Report (300) 300
Book Review (223) 223
Newsletter (215) 215
Book / eBook (124) 124
Conference Proceeding (108) 108
Trade Publication Article (48) 48
Dissertation (32) 32
Magazine Article (17) 17
Government Document (11) 11
Reference (10) 10
Data Set (6) 6
Web Resource (4) 4
Transcript (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (11943) 11943
index medicus (11011) 11011
female (6976) 6976
animals (6373) 6373
male (6300) 6300
mutation (5168) 5168
mice (4033) 4033
genetics & heredity (3308) 3308
adult (3199) 3199
genetic aspects (3121) 3121
loss of heterozygosity (2934) 2934
hearing loss (2866) 2866
analysis (2747) 2747
middle aged (2627) 2627
research (2458) 2458
oncology (2278) 2278
neurosciences (2232) 2232
deafness (2110) 2110
genes (2096) 2096
expression (2060) 2060
article (2043) 2043
biochemistry & molecular biology (1971) 1971
proteins (1900) 1900
cancer (1898) 1898
cell biology (1898) 1898
gene (1831) 1831
mutations (1815) 1815
gene expression (1766) 1766
aged (1735) 1735
genetics (1678) 1678
phenotype (1663) 1663
child (1593) 1593
otorhinolaryngology (1521) 1521
research article (1467) 1467
multidisciplinary sciences (1448) 1448
adolescent (1429) 1429
hearing-loss (1413) 1413
medicine (1390) 1390
physiological aspects (1338) 1338
risk factors (1336) 1336
pedigree (1284) 1284
health aspects (1279) 1279
hearing loss, sensorineural - genetics (1277) 1277
hearing impairment (1232) 1232
otorhinolaryngologic diseases (1231) 1231
genetic research (1188) 1188
disease models, animal (1173) 1173
child, preschool (1108) 1108
genotype (1105) 1105
pathology (1105) 1105
tumors (1093) 1093
dna mutational analysis (1051) 1051
endocrinology & metabolism (1051) 1051
obesity (1045) 1045
mice, inbred c57bl (1038) 1038
genomics (1031) 1031
molecular sequence data (1014) 1014
disease (1007) 1007
alleles (982) 982
base sequence (958) 958
biology (952) 952
gene mutations (950) 950
science (945) 945
apoptosis (934) 934
medicine & public health (931) 931
protein (928) 928
polymerase chain reaction (926) 926
weight loss (924) 924
genomes (904) 904
rodents (903) 903
signal transduction (875) 875
weight-loss (871) 871
medicine, research & experimental (867) 867
mice, knockout (865) 865
immunohistochemistry (861) 861
genetic predisposition to disease (806) 806
pediatrics (806) 806
identification (801) 801
young adult (798) 798
studies (796) 796
care and treatment (789) 789
heterozygosity (789) 789
medical research (788) 788
cells (781) 781
life sciences (780) 780
deoxyribonucleic acid--dna (775) 775
hearing loss - genetics (768) 768
pregnancy (755) 755
cochlea (752) 752
infant (752) 752
mutation - genetics (739) 739
gene deletion (730) 730
rats (729) 729
dna (727) 727
inner-ear (722) 722
amino acid sequence (716) 716
children (705) 705
sense organs (698) 698
mice, transgenic (681) 681
surgery (678) 678
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Gerstein Science - Stacks (52) 52
Robarts - Stacks (19) 19
Collection Dvlpm't (Acquisitions) - Vendor file (15) 15
UTL at Downsview - May be requested (12) 12
UofT at Mississauga - Stacks (12) 12
UofT at Scarborough - Stacks (10) 10
OISE - Stacks (6) 6
Collection Dvlpm't (Acquisitions) - Closed Orders (5) 5
Engineering & Comp. Sci. - Stacks (5) 5
Victoria University E.J. Pratt - Stacks (4) 4
Earth Sciences (Noranda) - Stacks (3) 3
St. Michael's College (John M. Kelly) - 2nd Floor (3) 3
New College (Ivey) - Stacks (2) 2
Online Resources - Online (2) 2
Sunnybrook Health Sciences Centre - Sunnybrook Stacks (2) 2
University College (Laidlaw) - Stacks (2) 2
Victoria University Emmanuel College - Stacks (2) 2
Dentistry (Harry R Abbott) - Stacks (1) 1
Engineering & Comp. Sci. - Missing (1) 1
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Law (Bora Laskin) - Stacks (1) 1
Markham Stouffville Hospital - Stacks (1) 1
OISE - Curriculum Resources (1) 1
Providence Healthcare - Stacks (1) 1
Robarts - Storage (1) 1
Royal Ontario Museum - Stacks (1) 1
Sunnybrook Health Sciences Centre - Holland Stacks (1) 1
Trinity College (John W Graham) - Material is damaged (1) 1
University College (Laidlaw) - May be requested in 6-10 wks (1) 1
more...
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (22500) 22500
German (22) 22
Japanese (17) 17
French (14) 14
Chinese (11) 11
Spanish (8) 8
Polish (7) 7
Portuguese (6) 6
Russian (5) 5
Korean (3) 3
Italian (2) 2
Turkish (2) 2
Arabic (1) 1
Croatian (1) 1
Czech (1) 1
Swedish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
by Kralovics, Robert and Passamonti, Francesco and Buser, Andreas S and Teo, Soon-Siong and Tiedt, Ralph and Passweg, Jakob R and Tichelli, Andre and Cazzola, Mario and Skoda, Radek C
The New England Journal of Medicine, ISSN 0028-4793, 04/2005, Volume 352, Issue 17, pp. 1779 - 1790
Polycythemia vera, essential thrombocythemia, and myelofibrosis are idiopathic myeloproliferative diseases. These investigators identified a mutation in a gene... 
MEDICINE, GENERAL & INTERNAL | POLYCYTHEMIA-VERA | IN-SITU HYBRIDIZATION | PSEUDOKINASE DOMAIN | STEM-CELL | UNIPARENTAL DISOMY | ESSENTIAL THROMBOCYTHEMIA | DIAGNOSTIC-CRITERIA | IMATINIB MESYLATE | WILMS-TUMOR | ERYTHROID PROGENITORS | Amino Acid Sequence | Humans | Middle Aged | Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics | Molecular Sequence Data | Male | Polycythemia Vera - genetics | Proto-Oncogene Proteins - genetics | Chromosomes, Human, Pair 9 | Loss of Heterozygosity | Case-Control Studies | Janus Kinase 2 | Point Mutation | Primary Myelofibrosis - genetics | Protein-Tyrosine Kinases - genetics | DNA Mutational Analysis | Adolescent | Aged, 80 and over | Adult | Female | Aged | Microsatellite Repeats | Thrombocytosis - genetics | Research | Diagnosis | Gene mutations | Myeloproliferative disorders | Risk factors | Hematopoietic growth factors | Medical treatment | Blood | Deoxyribonucleic acid--DNA
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Gain-of-function mutation of microRNA-140 in human skeletal dysplasia
by Grigelioniene, Giedre and Suzuki, Hiroshi I and Taylan, Fulya and Mirzamohammadi, Fatemeh and Borochowitz, Zvi U and Ayturk, Ugur M and Tzur, Shay and Horemuzova, Eva and Lindstrand, Anna and Weis, Mary Ann and Grigelionis, Gintautas and Hammarsjö, Anna and Marsk, Elin and Nordgren, Ann and Nordenskjöld, Magnus and Eyre, David R and Warman, Matthew L and Nishimura, Gen and Sharp, Phillip A and Kobayashi, Tatsuya
Nature Medicine, ISSN 1078-8956, 2019, Volume 25, Issue 4, pp. 583 - 583
MicroRNAs (miRNAs) are post-transcriptional regulators of gene expression. Heterozygous loss-of-function point mutations of miRNA genes are associated with... 
TRANSCRIPTION FACTORS | MEDICINE, RESEARCH & EXPERIMENTAL | RNA | YB-1 | BIOCHEMISTRY & MOLECULAR BIOLOGY | CELL IDENTITY | CHONDROCYTE DIFFERENTIATION | CELL BIOLOGY | HEARING-LOSS | SUPER-ENHANCERS | SEED REGION | BINDING-SITES | EXPRESSION | Dysplasia | MicroRNA | Gene mutations | Genes | Genetic aspects | Genetic transcription | Protein binding | Reorganization and restructuring | Research | Binding proteins | Post-transcription | Regulators | Abnormalities | Biological evolution | MiRNA | Gene expression | Proteins | RNA-binding protein | Ribonucleic acids | Derepression | MicroRNAs | Chondrocytes | Bone dysplasia | Skeleton | Mutation | Binding sites
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20)
by Duncan, Christopher J A and Dinnigan, Emma and Theobald, Rachel and Grainger, Angela and Skelton, Andrew J and Hussain, Rafiqul and Willet, Joseph D P and Swan, David J and Coxhead, Jonathan and Thomas, Matthew F and Thomas, Julian and Zamvar, Veena and Slatter, Mary A and Cant, Andrew J and Engelhardt, Karin R and Hambleton, Sophie
Annals of the Rheumatic Diseases, ISSN 0003-4967, 05/2018, Volume 77, Issue 5, pp. 783 - 786
Parameters Pretransplant Post-transplant Reference range Laboratory Haemoglobin (g/dL) 9.8 12.4 13.5-17.5 Leucocytes (109/L) 1.88 3.47 150-450 Lymphocytes... 
Complex autoimmunity | NF-κB regulation | A20 haploinsufficiency | Monogenic autoimmunity | TNF signalling | Immune homeostasis | Primary immunodeficiency | SYSTEMIC-LUPUS-ERYTHEMATOSUS | POLYMORPHISMS | RHEUMATOLOGY | VARIANTS | INFLAMMATION | Autoimmune Diseases - genetics | Tumor Necrosis Factor alpha-Induced Protein 3 - genetics | Humans | Adolescent | Male | Loss of Function Mutation - genetics | Loss of Heterozygosity - genetics | Lupus | Antigens | Enzymes | Transplants & implants | Disease | Genes | Neutrophils | Experiments | Proteins | Lymphocytes | Stem cells | Fibroblasts | Gangrene | Tumor necrosis factor-TNF | Diabetes | Mutation | Autoimmune diseases | Age | Letter | 2311 | 1506
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans
by Vivian S. Lee and Carmen M. Halabi and Erin P. Hoffman and Nikkola Carmichael and Ignaty Leshchiner and Christine G. Lian and Andrew J. Bierhals and Dana Vuzman and Brigham Genomic Medicine and Robert P. Mecham and Natasha Y. Frank and Nathan O. Stitziel and Brigham Genomic Med and Brigham Genomic Medicine
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2016, Volume 113, Issue 31, pp. 8759 - 8764
Thoracic aortic aneurysms and dissections (TAAD) represent a substantial cause of morbidity and mortality worldwide. Many individuals presenting with an... 
CRISPR/Cas9 | whole-genome sequencing | MULTIDISCIPLINARY SCIENCES | MOUSE | CROSS-LINKING | lysyl oxidase | LYSYL-OXIDASE | BETA | HAPLOINSUFFICIENCY | ELASTOGENESIS | genetics | MARFAN-SYNDROME | ELASTIN | MICE | aortic dissection | EXPRESSION | Aneurysm, Dissecting - genetics | Aortic Aneurysm, Thoracic - genetics | Genetic Predisposition to Disease - genetics | Loss of Function Mutation | Aortic Aneurysm, Thoracic - enzymology | Humans | Mice, Inbred C57BL | Middle Aged | Family Health | Male | DNA Mutational Analysis - methods | Mice, Knockout | Aneurysm, Dissecting - enzymology | Animals | Pedigree | Base Sequence | Protein-Lysine 6-Oxidase - metabolism | Adult | Female | Aged | Protein-Lysine 6-Oxidase - genetics | Biological Sciences | CRISPR | Cas9
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease
by Arnadottir, Gudny A and Norddahl, Gudmundur L and Gudmundsdottir, Steinunn and Agustsdottir, Arna B and Sigurdsson, Snaevar and Jensson, Brynjar O and Bjarnadottir, Kristbjorg and Theodors, Fannar and Benonisdottir, Stefania and Ivarsdottir, Erna V and Oddsson, Asmundur and Kristjansson, Ragnar P and Sulem, Gerald and Alexandersson, Kristjan F and Juliusdottir, Thorhildur and Gudmundsson, Kjartan R and Saemundsdottir, Jona and Jonasdottir, Adalbjorg and Jonasdottir, Aslaug and Sigurdsson, Asgeir and Manzanillo, Paolo and Gudjonsson, Sigurjon A and Thorisson, Gudmundur A and Magnusson, Olafur Th and Masson, Gisli and Orvar, Kjartan B and Holm, Hilma and Bjornsson, Sigurdur and Arngrimsson, Reynir and Gudbjartsson, Daniel F and Thorsteinsdottir, Unnur and Jonsdottir, Ingileif and Haraldsson, Asgeir and Sulem, Patrick and Stefansson, Kari
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 4447 - 9
Mutations in genes encoding subunits of the phagocyte NADPH oxidase complex are recognized to cause chronic granulomatous disease (CGD), a severe primary... 
MYCOBACTERIUM-TUBERCULOSIS | CATALASE | NADPH OXIDASE | LEGIONELLA-PNEUMOPHILA | INFLAMMATORY-BOWEL-DISEASE | PROTEIN | GENE | VARIANTS | MACROPHAGES | MULTIDISCIPLINARY SCIENCES | HUMAN KNOCKOUTS | Homozygote | Pedigree | Respiratory Burst | Colitis - genetics | Humans | Granulomatous Disease, Chronic - genetics | Colitis - pathology | Female | Male | Cytochromes b - metabolism | Child | Loss of Function Mutation - genetics | Chronic granulomatous disease | Inflammatory bowel diseases | Immunodeficiency | Oxidase | Infections | Homozygosity | Macrophages | NAD(P)H oxidase | Proteins | Homozygotes | Inflammatory bowel disease | Intestine | Mutation | Colitis
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Mice harboring the human SLC30A8 R138X loss-of-function mutation have increased insulin secretory capacity
by Kleiner, Sandra and Gomez, Daniel and Megra, Bezawit and Na, Erqian and Bhavsar, Ramandeep and Cavino, Katie and Xin, Yurong and Rojas, Jose and Dominguez-Gutierrez, Giselle and Zambrowicz, Brian and Carrat, Gaelle and Chabosseau, Pauline and Hu, Ming and Murphy, Andrew J and Yancopoulos, George D and Rutter, Guy A and Gromada, Jesper
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 08/2018, Volume 115, Issue 32, pp. E7642 - E7649
SLC30A8 encodes a zinc transporter that is primarily expressed in the pancreatic islets of Langerhans. In beta-cells it transports zinc into insulin-containing... 
SLC30A8 | Genetic mutation | Pancreatic beta cell | Insulin secretion | Zinc transporter | pancreatic beta cell | GLUCOSE-HOMEOSTASIS | EXOCYTOSIS | MECHANISM | MULTIDISCIPLINARY SCIENCES | BETA-CELLS | genetic mutation | insulin secretion | zinc transporter | ZINC TRANSPORTER ZNT8 | EXPRESSION | Loss of Function Mutation | Zinc Transporter 8 - genetics | Diabetes Mellitus, Type 2 - genetics | Humans | Male | Diabetes Mellitus, Type 2 - metabolism | Insulin-Secreting Cells - metabolism | Hyperglycemia - chemically induced | Insulin Secretion | Disease Models, Animal | Mice, Inbred C57BL | Blood Glucose | Zinc Transporter 8 - metabolism | Receptor, Insulin - antagonists & inhibitors | Gene Knock-In Techniques | Mice, Knockout | Peptides - pharmacology | Hyperglycemia - metabolism | Insulin - metabolism | Animals | Hyperglycemia - blood | Alleles | Glucose - metabolism | Receptor, Insulin - metabolism | Mice | Genetic aspects | Gene mutations | Observations | Insulin | Biological Sciences | PNAS Plus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics
by Yazdani, A and Elsea, SH and Schaid, DJ and Kosorok, MR and Dangol, G and Samiei, A
BMC GENOMICS, ISSN 1471-2164, 05/2019, Volume 20, Issue 1, pp. 395 - 16
Background: Many genome-wide association studies have detected genomic regions associated with traits, yet understanding the functional causes of association... 
Instrumental variable | Genome analysis | ACID | Structural equation modeling | Causal network in observational study | Loss of function | IDENTIFICATION | ATHEROSCLEROSIS RISK | BIOMARKERS | LUNG-CANCER | RARE VARIANTS | GENETICS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | Underlying metabolomic relationship | Mendelian randomization principles | WIDE ASSOCIATION | AFRICAN-AMERICANS | The G-DAG algorithm | BLOOD | Hypertension | Genomics | African Americans | Amino acids | Genomes | Triglycerides | Research | Monounsaturated fatty acids | Algorithms | Metabolites | Analysis | Atherosclerosis | Genetic research | Genetic aspects | Metabolomics | Pleiotropy | Genetic variation | Health aspects | European Americans | Myocardial infarction | Disease | Lipids | Risk factors | Biological effects | Genetic analysis | Population | Genetics | Bioinformatics | Phenotypes | Risk analysis | Gene expression | Fatty acids | Biological activity | Studies | Genetic variance | Arteriosclerosis | Mutation | Methods | Polymorphism
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Loss-of-function mutation of serine racemase attenuates retinal ganglion cell loss in diabetic mice
by Jiang, Haiyan and Du, Jinlin and Song, Juan and Li, Yanqi and Wu, Mengjuan and Wu, Shengzhou and Zhou, Jing
Experimental Eye Research, ISSN 0014-4835, 10/2018, Volume 175, pp. 90 - 97
Consistent results suggest the promoting roles of serine racemase (SR)/D-serine in retinal neurodegeneration in diabetic retinopathy (DR). However, the direct... 
Retinal degeneration | Diabetic retinopathy | Ins2Akita | D-serine | Retinal ganglion cell | Ins2 | LOCALIZATION | ACTIVATION | EXCITOTOXICITY | Ins2(Akita) | GLUTAMATE | EARLY-ONSET | NMDA | OPHTHALMOLOGY | RECEPTORS | EXPRESSION | METHYL-D-ASPARTATE | SUBUNIT | Cell Count | Diabetic Retinopathy - pathology | Genotyping Techniques | Retinal Ganglion Cells - metabolism | Retinal Degeneration - metabolism | Retinal Degeneration - prevention & control | Retinal Ganglion Cells - pathology | Diabetes Mellitus, Experimental - prevention & control | Hyperglycemia - pathology | Polymerase Chain Reaction | Diabetes Mellitus, Experimental - metabolism | Insulin - genetics | Fluorescent Antibody Technique, Indirect | Disease Models, Animal | In Situ Nick-End Labeling | Mice, Inbred C57BL | Diabetic Retinopathy - metabolism | Hyperglycemia - metabolism | Diabetic Retinopathy - prevention & control | Animals | Racemases and Epimerases - genetics | Diabetes Mellitus, Experimental - pathology | Mice | Blood Glucose - metabolism | Microscopy, Fluorescence | Loss of Function Mutation - genetics | Hyperglycemia | Analysis | Serine | Genetic aspects | Ophthalmology | Ganglion
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Unusual cutaneous features associated with a heterozygous gain‐of‐function mutation in IFIH1: overlap between Aicardi‐Goutières and Singleton‐Merten syndromes
by Bursztejn, A.‐C and Briggs, T.A and del Toro Duany, Y and Anderson, B.H and O'Sullivan, J and Williams, S.G and Bodemer, C and Fraitag, S and Gebhard, F and Leheup, B and Lemelle, I and Oojageer, A and Raffo, E and Schmitt, E and Rice, G.I and Hur, S and Crow, Y.J
British Journal of Dermatology, ISSN 0007-0963, 12/2015, Volume 173, Issue 6, pp. 1505 - 1513
Summary Cutaneous lesions described as chilblain lupus occur in the context of familial chilblain lupus or Aicardi–Goutières syndrome. To date, seven genes... 
VARIANTS | SAMHD1 | TREX1 | DERMATOLOGY | Odontodysplasia - pathology | Humans | Vascular Calcification - genetics | Child, Preschool | Infant | Male | Metacarpus - abnormalities | Nervous System Diseases - genetics | Autoimmune Diseases of the Nervous System - pathology | Interferon-Induced Helicase, IFIH1 | Skin Diseases, Genetic - genetics | Tooth Loss - genetics | Autoimmune Diseases of the Nervous System - genetics | Adult | Osteoporosis - genetics | Nervous System Malformations - genetics | Chilblains - genetics | Aortic Diseases - pathology | Nervous System Malformations - pathology | Skin Diseases, Genetic - pathology | Lupus Erythematosus, Cutaneous - genetics | Muscular Diseases - pathology | Mutation - genetics | Vascular Calcification - pathology | DEAD-box RNA Helicases - genetics | Aortic Diseases - genetics | Phenotype | Osteoporosis - pathology | Metacarpus - pathology | Heterozygote | Odontodysplasia - genetics | Muscular Diseases - genetics | Dental Enamel Hypoplasia - pathology | Dental Enamel Hypoplasia - genetics | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text A novel variant glanzmann thrombasthenia due to co-inheritance of a loss-and a gain-of-function mutation of ITGB3: Evidence of a dominant effect of gain-of-function mutations
by Bury, Loredana and Zetterberg, Eva and Leinøe, Eva B and Falcinelli, Emanuela and Marturano, Alessandro and Manni, Giorgia and Nurden, Alan T and Gresele, Paolo
Haematologica, ISSN 0390-6078, 06/2018, Volume 103, Issue 6, pp. e259 - e263
PLATELET DYSFUNCTION | ACTIVATION | DOMAIN | INTEGRIN | MACROTHROMBOCYTOPENIA | PHENOTYPE | HEMATOLOGY | Loss of Function Mutation | Genetic Association Studies | Humans | Erythrocyte Indices | Phenotype | Thrombasthenia - diagnosis | Genes, Dominant | Blood Platelets - metabolism | DNA Mutational Analysis | Pedigree | Thrombasthenia - genetics | Blood Platelets - ultrastructure | Alleles | Platelet Function Tests | Biomarkers | Adult | Female | Integrin beta3 - genetics | Gain of Function Mutation | Amino Acid Substitution | Online Only | Clinical Medicine | Hematologi | Medical and Health Sciences | Hematology | Klinisk medicin | Medicin och hälsovetenskap
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Loss-of-function mutation in Mirta22/Emc10 rescues specific schizophrenia-related phenotypes in a mouse model of the 22q11.2 deletion
by Diamantopoulou, Anastasia and Sun, Ziyi and Mukai, Jun and Xu, Bin and Fenelon, Karine and Karayiorgou, Maria and Gogos, Joseph A
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 07/2017, Volume 114, Issue 30, pp. E6127 - E6136
Identification of protective loss-of-function (LoF) mutations holds great promise for devising novel therapeutic interventions, although it faces challenges... 
LoF mutations | 22q11.2 microdeletion | Mirta22/Emc10 | MICRODELETION | PREPULSE INHIBITION | NEGATIVE SYMPTOMS | MULTIDISCIPLINARY SCIENCES | HABITUATION | FUNCTION VARIANT | MEDIAL PREFRONTAL CORTEX | MICE | LONG-TERM POTENTIATION | DEFICITS | WORKING-MEMORY | Genetic Predisposition to Disease | Loss of Function Mutation | Membrane Proteins - genetics | Mice, Inbred C57BL | Male | Neuronal Plasticity - genetics | Phenotype | Animals | Schizophrenia - genetics | Membrane Proteins - physiology | Schizophrenia - physiopathology | Female | Membrane Proteins - metabolism | Mice | Biological Sciences | Mirta22 | PNAS Plus | Emc10
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Loss‐of‐function mutation of the calcium sensor CBL1 increases aluminum sensitivity in Arabidopsis
by Ligaba‐Osena, Ayalew and Fei, Zhangjun and Liu, Jiping and Xu, Yimin and Shaff, Jon and Lee, Sung‐Chul and Luan, Sheng and Kudla, Jörg and Kochian, Leon and Piñeros, Miguel
New Phytologist, ISSN 0028-646X, 04/2017, Volume 214, Issue 2, pp. 830 - 841
Summary Despite the physiological importance of aluminum (Al) phytotoxicity for plants, it remained unknown if, and how, calcineurin B‐like calcium sensors... 
CIPKs | aluminum (Al) | citrate | malate | Arabidopsis | RNA‐Seq | CBL1 | RNA-Seq | TRANSCRIPTION FACTORS | ANION CHANNEL | MEMBRANE H+-ATPASE | PROTEIN-KINASE | PLASMA-MEMBRANE | PLANT SCIENCES | SIGNALING PATHWAY | MALATE TRANSPORTER | DEFICIENCY RESPONSES | ABSCISIC-ACID | POTASSIUM CHANNEL | Calcium-Binding Proteins - metabolism | Arabidopsis Proteins - genetics | Arabidopsis - drug effects | Plant Roots - metabolism | Calcium - metabolism | Genes, Plant | Plant Roots - genetics | Transcriptome - drug effects | Transcriptome - genetics | Aluminum - toxicity | Down-Regulation - drug effects | Down-Regulation - genetics | Arabidopsis - metabolism | Plant Roots - drug effects | Arabidopsis - genetics | Arabidopsis Proteins - metabolism | Gene Expression Regulation, Plant - drug effects | Malates - metabolism | Stress, Physiological - drug effects | Gene Ontology | Calcium-Binding Proteins - genetics | Loss of Function Mutation - genetics | Arabidopsis thaliana | RNA sequencing | RNA | Analysis | Physiological aspects | Genetic aspects | Genetic transcription | Plants | Oxidative stress | Calcium | Transcription | Aluminum | Growth | Genes | Calcineurin | Homeostasis | Deployment | Kinases | Proteins | Reduction | Dynamics | Chelation | Physiology | Calcium aluminate | Shoots | Mutations | Cell walls | Aluminium | Metabolism | Gene expression | Phytotoxicity | Malate | Exudation
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights