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Human Mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 899 - 903
Biallelic and pathogenic variants in the RTTN gene, encoding the centrosomal protein Rotatin, are associated with variable degrees of neurodevelopmental... 
microcephaly | brachydactyly | RTTN | exon skipping | Rotatin | gene variant | RTTN gene variant | MALFORMATIONS | GENETICS & HEREDITY | Dwarfism | Microencephaly | Leukocyte migration | Magnetic resonance imaging | Neurodevelopmental disorders | Microcephaly | Cell migration | Brachydactyly | Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 2016, Volume 371, pp. 105 - 111
Journal Article
Stem Cell Research, ISSN 1873-5061, 07/2019, Volume 38, pp. 101474 - 101474
Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene . We generated human iPSC lines from primary... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CELL & TISSUE ENGINEERING | CELL BIOLOGY
Journal Article
PLoS Genetics, ISSN 1553-7390, 07/2017, Volume 13, Issue 7, pp. e1006897 - e1006897
Claudins constitute the major component of tight junctions and regulate paracellular permeability of epithelia. Claudin-10 occurs in two major isoforms that... 
CLAUDINS | BARRIER | DISEASE | GENETICS & HEREDITY | ARCHITECTURE | TIGHT JUNCTION PROTEINS | CHANNELS | MUTATIONS | MODEL | SECRETION | EXPRESSION | Claudins - genetics | Renal Insufficiency - genetics | Epithelial Cells - metabolism | Kidney - pathology | Cations - metabolism | Humans | Hypohidrosis | Renal Insufficiency - metabolism | Mutation, Missense | Permeability | Microscopy, Electron | Kidney - metabolism | Animals | Claudins - metabolism | Protein Isoforms - metabolism | Renal Insufficiency - pathology | Tight Junctions | Biological Transport - genetics | Mice | Protein Isoforms - genetics | Causes of | Genetic aspects | Hyperhidrosis | Genetic variation | Health aspects | Visualization | Biotechnology | Membranes | Laboratories | Funding | Syngeneic grafts | Glands | Science | Homeostasis | Selectivity | Proteins | Immunology | Missense mutation | Physiology | Magnesium | Sweat | Supervision | Kidneys | Tight junctions | Secretion | Reabsorption | Roles | Electron microscopy | Hereditary diseases | Resistance | Pathology | Intolerance | Isoforms | Plasma membranes | Renal failure | Software | Cations | Genetic engineering | Conductance | Mutation | Three dimensional models | Hyperparathyroidism | Kidney transplantation | Index Medicus | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2017, Volume 82, Issue 4, pp. 562 - 577
Journal Article
Stem Cell Research, ISSN 1873-5061, 08/2019, Volume 39, pp. 101523 - 101523
Dravet syndrome (DS) is a childhood epilepsy syndrome caused by heterozygous mutations in the gene encoding voltage-gated sodium channel Na 1.1. We generated... 
Index Medicus
Journal Article
Stem Cell Research, ISSN 1873-5061, 08/2019, Volume 39, pp. 101518 - 101518
Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene ( ). We... 
Index Medicus
Journal Article
Journal of Clinical Neuroscience, ISSN 0967-5868, 09/2019, Volume 67, pp. 19 - 23
Hereditary Spastic paraplegias (HSPs) are heterogeneous group of degenerative disorders characterized by progressive weakness and spasticity of the lower... 
Ataxia | SPG56 | Spastic paraplegia | Peripheral neuropathy | SPG11
Journal Article
International Journal of Agriculture and Biology, ISSN 1560-8530, 2016, Volume 18, Issue 5, pp. 903 - 905
This study was designed to find single nucleotide polymorphism (SNPs) in coding and non-coding region of PRKAA2 gene in Nili-Ravi and Kundi buffaloes. The... 
AMPK | Pakistan | PRKAA2 | SNP | Buffalo | PROTEIN | AGRICULTURE, MULTIDISCIPLINARY | ENERGY SENSOR | NUTRIENT | Genetic aspects | Zoological research | Research | Genetic polymorphisms | Water buffalo
Journal Article
Journal Article
Journal of Political Studies, ISSN 1994-1080, 12/2014, Volume 21, Issue 2, pp. 91 - 91
  In the wake of the War on Terror, Pakistan carried out several military operations on its Northwestern frontier. These operations invited considerable amount... 
Cartography | War | Ontology | Violence | Success | Military policy
Journal Article
Psychiatry Investigation, ISSN 1738-3684, 09/2017, Volume 14, Issue 5, pp. 687 - 692
Objective Schizophrenia is a chronic neuropsychiatric disease afflicting around 1.1% of the population worldwide. Recently, MIR137, CACNAIC, CSMD1, DRD2, and... 
GRM3 | MIR137 | Pakistan | Schizophrenia | CACNA1C | DRD2 | CSMD1 | PSYCHIATRY | POLYMORPHISM | BIPOLAR DISORDER | EXECUTIVE FUNCTION | RS10503253 | GENETIC-VARIATION | GLUTAMATE | BRAIN-FUNCTION | RECEPTOR GENE | HAN CHINESE | ASSOCIATION | Original
Journal Article
Journal Article
Neurobiology of Disease, ISSN 0969-9961, 2007, Volume 28, Issue 3, pp. 237 - 250
Abstract Leber’s hereditary optic neuropathy (LHON) is a retinal neurodegenerative disorder caused by mitochondrial DNA point mutations. Complex I of the... 
Neurology | Thapsigargin | Permeability transition | Mitochondria | Calcium imaging | Minocycline | LHON | Complex I | Leber’s hereditary optic neuropathy | Apoptosis
Journal Article