Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
暂无分享,去创建一个
Ian M. Carr | Jennifer Kirkham | Michel Michaelides | Chris F. Inglehearn | Anthony T. Moore | Mehdi Shahrabi | Hélène Dollfus | M. Michaelides | A. Moore | C. Inglehearn | A. Bloch-Zupan | A. Mighell | H. Dollfus | J. Kirkham | R. Shore | I. Carr | R. Carlos | D. Parry | M. Heidari | David A. Parry | Alan J. Mighell | Walid El-Sayed | Roger C. Shore | Ismail K. Jalili | Agnes Bloch-Zupan | Roman Carlos | Louise M. Downey | Katharine M. Blain | David C. Mansfield | Mansour Heidari | Parissa Aref | Mohsen Abbasi | L. Downey | D. Mansfield | M. Shahrabi | I. Jalili | W. El-Sayed | K. M. Blain | P. Aref | M. Abbasi | A. Moore
[1] B. N. Bachra,et al. Precipitation of calcium carbonates and phosphates. 3. The effect of magnesium and fluoride ions on the spontaneous precipitation of calcium carbonates and phosphates. , 1965, Archives of oral biology.
[2] B. N. Bachra,et al. PRECIPITATION OF CALCIUM CARBONATES AND PHOSPHATES. II. A PRECIPITATION DIAGRAM FOR THE SYSTEM CALCIUM-CARBONATE-PHOSPHATE AND THE HETEROGENEOUS NUCLEATION OF SOLIDS IN THE METASTABILITY REGION. , 1965, Advances in fluorine research and dental caries prevention.
[3] J. Kirkham,et al. Distribution and uptake of magnesium by developing deciduous bovine incisor enamel. , 1984, Archives of oral biology.
[4] M. Mayer,et al. Voltage-dependent block by Mg2+ of NMDA responses in spinal cord neurones , 1984, Nature.
[5] M. Mayer,et al. Micromolar concentrations of Zn2+ antagonize NMDA and GABA responses of hippocampal neurons , 1987, Nature.
[6] I. Jalili,et al. A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome. , 1988, Journal of medical genetics.
[7] N. Capitanio,et al. Cytochrome oxidase assembly in yeast requires the product of COX11, a homolog of the P. denitrificans protein encoded by ORF3. , 1990, The EMBO journal.
[8] U. Landegren,et al. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). , 1991, Genomics.
[9] B. Gallie,et al. Molecular cloning and characterization of the mouse RB1 promoter. , 1993, Oncogene.
[10] T. L. McGee,et al. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[11] M. Slaughter,et al. Serial inhibitory synapses in retina , 1997, Visual Neuroscience.
[12] S. Jacobson,et al. Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel , 1998, Nature Genetics.
[13] I. Maumenee,et al. Genetic basis of total colourblindness among the Pingelapese islanders , 2000, Nature Genetics.
[14] Yan Shen,et al. DSPP mutation in dentinogenesis imperfecta Shields type II , 2001, Nature Genetics.
[15] T. Amemiya,et al. Retinal changes in magnesium-deficient rats. , 2001, Experimental eye research.
[16] R. Davies,et al. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. , 2001, Human molecular genetics.
[17] H. Odelius,et al. Secondary ion mass spectrometry and X-ray microanalysis of hypomineralized enamel in human permanent first molars. , 2001, Archives of oral biology.
[18] M. Claustres,et al. Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa , 2001, Human Genetics.
[19] S. Robertson,et al. Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate , 2002, European Journal of Human Genetics.
[20] Seth Blackshaw,et al. Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. , 2002, Human molecular genetics.
[21] J. Kirkham,et al. Inheritance Pattern and Elemental Composition of Enamel Affected by Hypomaturation Amelogenesis Imperfecta , 2002, Connective tissue research.
[22] J. She,et al. Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). , 2003, Gene.
[23] J. She,et al. Molecular cloning and characterization of the mouse Acdp gene family , 2004, BMC Genomics.
[24] J. T. Wright,et al. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta , 2004, Journal of Medical Genetics.
[25] Xiong-Li Yang. Characterization of receptors for glutamate and GABA in retinal neurons , 2004, Progress in Neurobiology.
[26] D. Hunt,et al. An autosomal recessive cone–rod dystrophy associated with amelogenesis imperfecta , 2004, Journal of Medical Genetics.
[27] T. Hart,et al. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta , 2005, Journal of Medical Genetics.
[28] G. Quamme,et al. Functional characterization of ACDP2 (ancient conserved domain protein), a divalent metal transporter. , 2005, Physiological genomics.
[29] M. Escamilla,et al. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism , 2005, American journal of medical genetics. Part A.
[30] J. She,et al. Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis , 2005, Molecular pain.
[31] D. Hunt,et al. Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis. , 2006, Survey of ophthalmology.
[32] N. Suda,et al. A case of amelogenesis imperfecta, cleft lip and palate and polycystic kidney disease. , 2006, Orthodontics & craniofacial research.
[33] Xiong-Li Yang,et al. N-Methyl-d-aspartate receptors in the retina , 2006, Molecular Neurobiology.
[34] David R. Brown,et al. Ancient conserved domain protein‐1 binds copper and modifies its retention in cells , 2007, Journal of neurochemistry.
[35] Edward N Pugh,et al. The Proteome of the Mouse Photoreceptor Sensory Cilium Complex*S , 2007, Molecular & Cellular Proteomics.
[36] A. Verloes,et al. The genetic basis of inherited anomalies of the teeth. Part 1: clinical and molecular aspects of non-syndromic dental disorders. , 2008, European journal of medical genetics.
[37] T. de Ravel,et al. The genetic basis of inherited anomalies of the teeth. Part 2: syndromes with significant dental involvement. , 2008, European journal of medical genetics.
[38] M. Barron,et al. The cell adhesion molecule nectin-1 is critical for normal enamel formation in mice , 2008, Human molecular genetics.
[39] Z. Lee,et al. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. , 2008, American journal of human genetics.