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NISC Comparative Sequencing Program Selected Research

Ciliopathies

12/2015Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromes.
9/2012Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

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NISC Comparative Sequencing Program Research Topics

Disease

8Infections
12/2021 - 04/2013
7Neoplasms (Cancer)
09/2017 - 07/2010
6Melanoma (Melanoma, Malignant)
01/2019 - 07/2010
5Neoplasm Metastasis (Metastasis)
01/2017 - 11/2010
3Agenesis of Cerebellar Vermis
03/2017 - 12/2015
2Congenital Abnormalities (Deformity)
01/2022 - 12/2019
2Cross Infection (Nosocomial Infection)
01/2021 - 09/2014
2Ciliopathies
12/2015 - 09/2012
2Breast Neoplasms (Breast Cancer)
10/2015 - 04/2014
2Carcinogenesis
10/2015 - 08/2011
2Peripheral Nervous System Diseases (PNS Diseases)
01/2013 - 10/2010
1Ectrodactyly
01/2023
1Type C Niemann-Pick Disease (Niemann Pick Disease, Type C)
11/2021
1Neurodegenerative Diseases (Neurodegenerative Disease)
11/2021
1Inborn Genetic Diseases (Disease, Hereditary)
01/2020
1Hyperpigmentation
01/2019
1Coloboma (Colobomas)
01/2018
1Genetic Predisposition to Disease (Genetic Predisposition)
01/2018
1Portal Hypertension
01/2018
1Kidney Diseases (Kidney Disease)
01/2018
1Splenomegaly
01/2018
1Hypoxia (Hypoxemia)
01/2017
1Human Influenza (Influenza)
07/2016
1Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl)
01/2016
1Retinitis Pigmentosa (Pigmentary Retinopathy)
01/2016
1Metrorrhagia (Spotting)
11/2015
1Persistent Infection
01/2015
1Endometrial Neoplasms (Endometrial Cancer)
11/2014
1Cardiovascular Diseases (Cardiovascular Disease)
07/2014
1Acquired Immunodeficiency Syndrome (AIDS)
05/2014
1Coronary Artery Disease (Coronary Atherosclerosis)
03/2014
1Malignant Hyperthermia
11/2013
1Fanconi Anemia (Fanconi's Anemia)
05/2013
1Complementation Group D1 Fanconi Anemia
05/2013
1Paraplegia (Spastic Paraplegia)
04/2012
1Fatty Acid Hydroxylase-Associated Neurodegeneration
04/2012
1Undiagnosed Diseases
04/2012
1Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy)
01/2012
1Hypopigmentation (Hypomelanosis)
10/2011
1Genomic Instability
08/2011
1Hypersensitivity (Allergy)
08/2011
1Aneuploidy (Aneuploid)
08/2011

Drug/Important Bio-Agent (IBA)

7Proteins (Proteins, Gene)FDA Link
01/2019 - 01/2007
5DNA (Deoxyribonucleic Acid)IBA
01/2022 - 12/2015
5RNA (Ribonucleic Acid)IBA
01/2017 - 05/2013
5AntibodiesIBA
04/2016 - 05/2014
3Anti-Bacterial Agents (Antibiotics)IBA
12/2021 - 09/2014
2Biomarkers (Surrogate Marker)IBA
11/2021 - 07/2014
2ChromatinIBA
01/2019 - 01/2017
2EnzymesIBA
01/2018 - 01/2007
2Growth Hormone (Somatotropin)IBA
03/2017 - 01/2017
2Neutralizing AntibodiesIBA
07/2016 - 05/2014
2Carbapenems (Carbapenem Antibiotics)IBA
06/2016 - 09/2014
2VaccinesIBA
01/2016 - 04/2015
2NucleotidesIBA
11/2015 - 09/2012
2Tyrosine (L-Tyrosine)FDA Link
11/2014 - 05/2014
2Metalloproteases (Metalloproteinases)IBA
06/2011 - 11/2010
2DisintegrinsIBA
06/2011 - 11/2010
2Carrier Proteins (Binding Protein)IBA
03/2011 - 07/2010
1Codon (Codons)IBA
01/2023
1GlycosphingolipidsIBA
11/2021
1CholesterolIBA
11/2021
1Disinfectants (Biocides)IBA
01/2021
1SMN Complex ProteinsIBA
01/2020
1Mitogen-Activated Protein Kinase Kinases (MEKs)IBA
01/2019
1AZD 6244IBA
01/2019
1Melanins (Melanin)IBA
11/2018
1WastewaterIBA
01/2018
1Alanine Transaminase (SGPT)IBA
01/2018
1Alkaline PhosphataseIBA
01/2018
1Aspartate Aminotransferases (Aspartate Transaminase)IBA
01/2018
1Poly I-CIBA
01/2018
1TransferasesIBA
01/2018
1carbapenemaseIBA
01/2018
1Caspase 3 (Caspase-3)IBA
01/2017
1Hemagglutinins (Hemagglutinin)IBA
07/2016
1EpitopesIBA
04/2016
1necdinIBA
10/2015
1AIDS VaccinesIBA
04/2015
1Immunoglobulins (Immunoglobulin)IBA
04/2015
1env Gene ProductsIBA
04/2015
1Phosphotransferases (Kinase)IBA
11/2014
1Complementarity Determining Regions (Complementarity Determining Region)IBA
05/2014
1AntigensIBA
05/2014
1Ribosomal RNAIBA
04/2014
1RNA IsoformsIBA
04/2014
1CalciumIBA
11/2013
1Anesthetics (Anesthetic Agents)IBA
11/2013
1Neuromuscular Depolarizing AgentsIBA
11/2013
1Broadly Neutralizing AntibodiesIBA
04/2013
1Histidine-tRNA LigaseIBA
01/2013
1Uridine Diphosphate (UDP)IBA
04/2012
1IronIBA
04/2012
1Fatty Acids (Saturated Fatty Acids)IBA
04/2012
1Alanine-tRNA LigaseIBA
01/2012
1Monophenol Monooxygenase (Tyrosinase)IBA
10/2011
1Nonsense Codon (Nonsense Mutation)IBA
08/2011
1Proliferating Cell Nuclear Antigen (PCNA)IBA
08/2011
1Extracellular Matrix ProteinsIBA
06/2011

Therapy/Procedure

2Therapeutics
11/2021 - 09/2012