NDLI: Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.

Please wait, while we are loading the content...

Year: 2017 Volume: 114

Year: 2016 Volume: 113

Year: 2015 Volume: 112

Year: 2014 Volume: 111

Year: 2013 Volume: 110

Year: 2012 Volume: 109

Year: 2011 Volume: 108

Year: 2010 Volume: 107

Year: 2009 Volume: 106

Year: 2008 Volume: 105

Year: 2007 Volume: 104

Year: 2006 Volume: 103

Year: 2005 Volume: 102

Year: 2004 Volume: 101

Year: 2003 Volume: 100

Year: 2002 Volume: 99

Year: 2002 Volume: 99 Issue: 26

Year: 2002 Volume: 99 Issue: 25

Year: 2002 Volume: 99 Issue: 24

Year: 2002 Volume: 99 Issue: 23

A reassessment of human cranial plasticity: Boas revisited.

The evolution of fungus-growing termites and their mutualistic fungal symbionts.

Transneuronal tracing of diverse CNS circuits by Cre-mediated induction of wheat germ agglutinin in transgenic mice.

Drusen proteome analysis: an approach to the etiology of age-related macular degeneration.

Production of transgenic rats by lentiviral transduction of male germ-line stem cells

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice.

Control of photoperiod-regulated tuberization in potato by the Arabidopsis flowering-time gene CONSTANS.

Transcriptome analysis during cell division in plants.

DE-cadherin-mediated cell adhesion is essential for maintaining somatic stem cells in the Drosophila ovary.

The observed human sperm mutation frequency cannot explain the achondroplasia paternal age effect.

Distinct roles for CREB-binding protein and p300 in hematopoietic stem cell self-renewal.

Metabolic specialization associated with phenotypic switching in Candidaalbicans.

In vivo stabilization of the Dnmt1 (cytosine-5)- methyltransferase protein.

Proliferative action of mast-cell tryptase is mediated by PAR2, COX2, prostaglandins, and PPARgamma : Possible relevance to human fibrotic disorders.

Potentiation of serum response factor activity by a family of myocardin-related transcription factors.

Production of maternal-zygotic mutant zebrafish by germ-line replacement.

Viable hypomorphic signaling mutant of the Met receptor reveals a role for hepatocyte growth factor in postnatal cerebellar development.

A Lotus basic leucine zipper protein with a RING-finger motif negatively regulates the developmental program of nodulation.

The phage lambda CII transcriptional activator carries a C-terminal domain signaling for rapid proteolysis.

Origin of plant glycerol transporters by horizontal gene transfer and functional recruitment.

Orphan G protein-coupled receptors MrgA1 and MrgC11 are distinctively activated by RF-amide-related peptides through the $Gα_{q/11}$ pathway

Repair of topoisomerase I covalent complexes in the absence of the tyrosyl-DNA phosphodiesterase Tdp1.

Disruption of the checkpoint kinase 1/cell division cycle 25A pathway abrogates ionizing radiation-induced S and G2 checkpoints.

Biological models and genes of tumor reversion: cellular reprogramming through tpt1/TCTP and SIAH-1.

Neuroendocrine control of a sexually dimorphic behavior by a few neurons of the pars intercerebralis in Drosophila.

Replicating hepatitis delta virus RNA is edited in the nucleus by the small form of ADAR1.

Coordinate regulation of energy transduction modules in Halobacterium sp. analyzed by a global systems approach.

Catalysis of amide synthesis by RNA phosphodiester and hydroxyl groups.

Synthetic small inhibiting RNAs: efficient tools to inactivate oncogenic mutations and restore p53 pathways.

A previously undescribed chemical link between smoking and metabolic disease.

Dobzhansky-Muller incompatibilities in protein evolution.

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis.

Enhancing polyethylenimine's delivery of plasmid DNA into mammalian cells.

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.

Spectral mixing of rhythmic neuronal signals in sensory cortex.

A viral suppressor of RNA silencing differentially regulates the accumulation of short interfering RNAs and micro-RNAs in tobacco.

Expression of the antiapoptotic baculovirus p35 gene in tomato blocks programmed cell death and provides broad-spectrum resistance to disease.

Female investment is retarded pending reception of allosperm in a hermaphroditic colonial invertebrate.

Evidence of hybridity in invasive watermilfoil (Myriophyllum) populations.

Structural features of cytochrome c' folding intermediates revealed by fluorescence energy-transfer kinetics.

Differentiation of Hdm2-mediated p53 ubiquitination and Hdm2 autoubiquitination activity by small molecular weight inhibitors.

Laminar specificity of functional MRI onset times during somatosensory stimulation in rat.

RNA-binding protein Musashi family: roles for CNS stem cells and a subpopulation of ependymal cells revealed by targeted disruption and antisense ablation.

The Coprinus cinereus adherin Rad9 functions in Mre11-dependent DNA repair, meiotic sister-chromatid cohesion, and meiotic homolog pairing.

The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions.

The A14-A43 heterodimer subunit in yeast RNA pol I and their relationship to Rpb4-Rpb7 pol II subunits.

Negative autoregulation of BCL-6 is bypassed by genetic alterations in diffuse large B cell lymphomas.

Prebiotic synthesis from CO atmospheres: Implications for the origins of life

Molecular characterization of mouse gastric epithelial progenitor cells.

Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus.

Confirmation by FRET in individual living cells of the absence of significant amyloid beta -mediated caspase 8 activation.

The catalytic cycle of β-lactam synthetase observed by x-ray crystallographic snapshots

Glycoprotein gp110 of Epstein-Barr virus determines viral tropism and efficiency of infection.

Herpes viruses hedge their bets.

A ligand for the aryl hydrocarbon receptor isolated from lung.

Expression of human epileptic temporal lobe neurotransmitter receptors in Xenopus oocytes: An innovative approach to study epilepsy.

Effects of long-term treatment with the luteinizing hormone-releasing hormone (LHRH) agonist Decapeptyl and the LHRH antagonist Cetrorelix on the levels of pituitary LHRH receptors and their mRNA expression in rats.

A cell-free protein synthesis system for high-throughput proteomics.

No time loophole in Bell's theorem: the Hess-Philipp model is nonlocal.

Cag pathogenicity island-specific responses of gastric epithelial cells to Helicobacter pylori infection.

A single point mutation in ecdysone receptor leads to increased ligand specificity: implications for gene switch applications.

Presentation of antagonist peptides to naive CD4+ T cells abrogates spatial reorganization of class II MHC peptide complexes on the surface of dendritic cells.

Pre-steady-state DNA unwinding by bacteriophage T4 Dda helicase reveals a monomeric molecular motor

The structure and evolution of the major capsid protein of a large, lipid-containing DNA virus.

Nrdp1/FLRF is a ubiquitin ligase promoting ubiquitination and degradation of the epidermal growth factor receptor family member, ErbB3.

A chemoattractant for ascidian spermatozoa is a sulfated steroid.

Estrogen receptor-interacting protein that modulates its nongenomic activity-crosstalk with Src/Erk phosphorylation cascade.

Gene expression comparison of biopsies from Duchenne muscular dystrophy (DMD) and normal skeletal muscle.

Quantifying signaling-induced reorientation of T cell receptors during immunological synapse formation.

Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

Multistage carcinogenesis and the incidence of colorectal cancer.

Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia.

Combining mapping and arraying: An approach to candidate gene identification.

Identification of E2A target genes in B lymphocyte development by using a gene tagging-based chromatin immunoprecipitation system.

Analysis of optimality in natural and perturbed metabolic networks.

Caspase activation and neuroprotection in caspase-3- deficient mice after in vivo cerebral ischemia and in vitro oxygen glucose deprivation.

Time-lapse imaging of a dynamic phosphorylation-dependent protein-protein interaction in mammalian cells.

Down-regulation of parkin protein in transient focal cerebral ischemia: A link between stroke and degenerative disease?

Reactivation of a complex retrovirus is controlled by a molecular switch and is inhibited by a viral protein.

Short constrained peptides that inhibit HIV-1 entry.

Transcriptional activating regions target a cyclin-dependent kinase.

Mbd4 inactivation increases Cright-arrowT transition mutations and promotes gastrointestinal tumor formation.

Resistance to the macrolide antibiotic tylosin is conferred by single methylations at 23S rRNA nucleotides G748 and A2058 acting in synergy.

Varitint-waddler: a double whammy for hearing.

Engineered herpes simplex virus 1 is dependent on IL13Ralpha 2 receptor for cell entry and independent of glycoprotein D receptor interaction.

The inflationary effects of environmental fluctuations in source-sink systems.

Increased mitochondrial mass in mitochondrial myopathy mice

Posttranslational modifications in the CP43 subunit of photosystem II

Amino acids regulate the intracellular trafficking of the general amino acid permease of Saccharomycescerevisiae.

East Asian genotypes of Helicobacter pylori strains in Amerindians provide evidence for its ancient human carriage.

Retroviral delivery of small interfering RNA into primary cells.

Shedding light on an underground problem.

Uncoupling direct and indirect components of female choice in the wild.

Suppression of bone resorption by madindoline A, a novel nonpeptide antagonist to gp130.

Shape perception reduces activity in human primary visual cortex.

Heme deficiency may be a factor in the mitochondrial and neuronal decay of aging.

The catalytic domain of RNase E shows inherent 3' to 5' directionality in cleavage site selection.

Expression profiling of CD34+ hematopoietic stem/ progenitor cells reveals distinct subtypes of therapy-related acute myeloid leukemia.

Finding important sites in protein sequences.

Conformational energetics of stable and metastable states formed by DNA triplet repeat oligonucleotides: implications for triplet expansion diseases.

Antiepileptic drugs and apoptotic neurodegeneration in the developing brain.

Explaining the Pleistocene megafaunal extinctions: models, chronologies, and assumptions.

Coordination of the two heads of myosin during muscle contraction.

S-layer-streptavidin fusion proteins as template for nanopatterned molecular arrays.

Cytoskeletal-assisted dynamics of the mitochondrial reticulum in living cells.

Motion perception of saccade-induced retinal translation.

Distinct neural systems subserve person and object knowledge.

PsbS-dependent enhancement of feedback de-excitation protects photosystem II from photoinhibition.

Human CD8+ T cells do not require the polarization of lipid rafts for activation and proliferation.

Transcriptional profiles associated with aging and middle age-onset caloric restriction in mouse hearts

New insights and new approaches toward the study of age-related macular degeneration.

Head to head with Boas: did he err on the plasticity of head form?

Year: 2002 Volume: 99 Issue: 22

Year: 2002 Volume: 99 Issue: 21

Year: 2002 Volume: 99 Issue: 20

Year: 2002 Volume: 99 Issue: 19

Year: 2002 Volume: 99 Issue: 18

Year: 2002 Volume: 99 Issue: 17

Year: 2002 Volume: 99 Issue: 16

Year: 2002 Volume: 99 Issue: 15

Year: 2002 Volume: 99 Issue: 14

Year: 2002 Volume: 99 Issue: 13

Year: 2002 Volume: 99 Issue: 12

Year: 2002 Volume: 99 Issue: 11

Year: 2002 Volume: 99 Issue: 10

Year: 2002 Volume: 99 Issue: 9

Year: 2002 Volume: 99 Issue: 8

Year: 2002 Volume: 99 Issue: 7

Year: 2002 Volume: 99 Issue: 6

Year: 2002 Volume: 99 Issue: 5

Year: 2002 Volume: 99 Issue: 4

Year: 2002 Volume: 99 Issue: Suppl 4

Year: 2002 Volume: 99 Issue: 3

Year: 2002 Volume: 99 Issue: Suppl 3

Year: 2002 Volume: 99 Issue: 2

Year: 2002 Volume: 99 Issue: Suppl 2

Year: 2002 Volume: 99 Issue: 1

Year: 2002 Volume: 99 Issue: Suppl 1

Year: 2001 Volume: 98

Year: 2000 Volume: 97

Year: 1999 Volume: 96

Year: 1998 Volume: 95

Year: 1997 Volume: 94

Year: 1996 Volume: 93

Year: 1995 Volume: 92

Year: 1994 Volume: 91

Year: 1993 Volume: 90

Year: 1992 Volume: 89

Year: 1991 Volume: 88

Year: 1990 Volume: 87

Year: 1989 Volume: 86

Year: 1988 Volume: 85

Year: 1987 Volume: 84

Year: 1986 Volume: 83

Year: 1985 Volume: 82

Year: 1984 Volume: 81

Year: 1983 Volume: 80

Year: 1982 Volume: 79

Year: 1981 Volume: 78

Year: 1980 Volume: 77

Year: 1979 Volume: 76

Year: 1978 Volume: 75

Year: 1977 Volume: 74

Year: 1976 Volume: 73

Year: 1975 Volume: 72

Year: 1974 Volume: 71

Year: 1973 Volume: 70

Year: 1972 Volume: 69

Year: 1971 Volume: 68

Year: 1970 Volume: 67

Year: 1970 Volume: 66

Year: 1970 Volume: 65

Year: 1969 Volume: 64

Year: 1969 Volume: 63

Year: 1969 Volume: 62

Year: 1968 Volume: 61

Year: 1968 Volume: 60

Year: 1968 Volume: 59

Year: 1967 Volume: 58

Year: 1967 Volume: 57

Year: 1966 Volume: 56

Year: 1966 Volume: 55

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Kim, Hung J. Vogt, Thomas F. Noben-trauth, Konrad Kachar, Bechara Belyantseva, Inna A. Di Palma, Federica
Description	Author Affiliation: Di Palma F ( Section on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.);
Abstract	Deafness in spontaneously occurring mouse mutants is often associated with defects in cochlea sensory hair cells, opening an avenue to systematically identify genes critical for hair cell structure and function. The classical semidominant mouse mutant varitint-waddler (Va) exhibits early-onset hearing loss, vestibular defects, pigmentation abnormalities, and perinatal lethality. A second allele, Va(J), which arose in a cross segregating for Va, shows a less severe phenotype. By using a positional cloning strategy, we identify two additional members of the mucolipin gene family (Mcoln2 and Mcoln3) in the 350-kb Va(J) minimal interval and provide evidence for Mcoln3 as the gene mutated in varitint-waddler. Mcoln3 encodes a putative six-transmembrane-domain protein with sequence and motif similarities to the family of nonselective transient-receptor-potential (TRP) ion channels. In the Va allele an Ala419Pro substitution occurs in the fifth transmembrane domain of Mcoln3, and in Va(J), a second sequence alteration (Ile362Thr) occurring in cis partially rescues the Va allele. Mcoln3 localizes to cytoplasmic compartments of hair cells and plasma membrane of stereocilia. Hair cell defects are apparent by embryonic day 17.5, assigning Mcoln3 an essential role during early hair cell maturation. Our data suggest that Mcoln3 is involved in ion homeostasis and acts cell-autonomously. Hence, we identify a molecular link between hair cell physiology and melanocyte function. Last, MCOLN2 and MCOLN3 are candidate genes for hereditary and/or sporadic forms of neurosensory disorders in humans.
ISSN	00278424
e-ISSN	10916490
Journal	Proceedings of the National Academy of Sciences of the United States of America
Issue Number	23
Volume Number	99
Language	English
Publisher	National Academy of Sciences
Publisher Date	2002-11-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Deafness Genetics Membrane Proteins Mutagenesis Pigmentation Disorders Proteins Amino Acid Sequence Animals Binding Sites Chromosomes, Artificial, Bacterial Cochlea Abnormalities Crosses, Genetic DNA Primers Disease Models, Animal Gene Library Hair Cells, Auditory Mice Mice, Inbred C3H Mice, Inbred C57BL Mice, Inbred Strains Mice, Mutant Strains Molecular Sequence Data Sequence Alignment Sequence Homology, Amino Acid TRPM Cation Channels Transient Receptor Potential Channels Research Support, U.S. Gov't, P.H.S. Multidisciplinary
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Central Library (ISO-9001:2015 Certified)
Indian Institute of Technology Kharagpur
Kharagpur, West Bengal, India | PIN - 721302

See location in the Map
03222 282435
Mail: support@ndl.gov.in

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in