Published in Mol Vis on June 17, 2008
Lens gap junctions in growth, differentiation, and homeostasis. Physiol Rev (2010) 1.70
Oxidative stress, lens gap junctions, and cataracts. Antioxid Redox Signal (2009) 1.49
Connexin mutants and cataracts. Front Pharmacol (2013) 1.11
A novel GJA8 mutation (p.I31T) causing autosomal dominant congenital cataract in a Chinese family. Mol Vis (2009) 1.03
A Chinese family with progressive childhood cataracts and IVS3+1G>A CRYBA3/A1 mutations. Mol Vis (2010) 1.03
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50. Am J Physiol Cell Physiol (2011) 1.02
A G→T splice site mutation of CRYBA1/A3 associated with autosomal dominant suture cataracts in a Chinese family. Mol Vis (2011) 0.92
Mutation screening and genotype phenotype correlation of α-crystallin, γ-crystallin and GJA8 gene in congenital cataract. Mol Vis (2011) 0.91
A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree. Mol Vis (2010) 0.88
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract. Mol Vis (2011) 0.87
Mutational screening of Indian families with hereditary congenital cataract. Mol Vis (2013) 0.85
A novel Cx50 (GJA8) p.H277Y mutation associated with autosomal dominant congenital cataract identified with targeted next-generation sequencing. Graefes Arch Clin Exp Ophthalmol (2015) 0.81
A novel mutation in CRYAA is associated with autosomal dominant suture cataracts in a Chinese family. Mol Vis (2012) 0.81
Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis. Mol Syndromol (2017) 0.76
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family. J Ophthalmol (2016) 0.75
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts. Sci Rep (2016) 0.75
High Throughput Genetic Screening of 51 Paediatric Cataract Genes Identifies Causative Mutations in Inherited Paediatric Cataract in South Eastern Australia. G3 (Bethesda) (2017) 0.75
Structural and functional diversity of connexin genes in the mouse and human genome. Biol Chem (2002) 5.40
Congenital cataracts and their molecular genetics. Semin Cell Dev Biol (2007) 3.76
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet (1998) 3.64
Infantile cataracts. Surv Ophthalmol (1996) 3.06
PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS. Ann Hum Genet (1963) 2.90
Molecular genetic basis of inherited cataract and associated phenotypes. Surv Ophthalmol (2004) 2.85
Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet (1999) 2.79
Probable assignment of the Duffy blood group locus to chromosome 1 in man. Proc Natl Acad Sci U S A (1968) 2.74
Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene CRYBB2. Hum Mol Genet (1997) 2.69
Gap junctions: structure and function (Review). Mol Membr Biol (2002) 2.58
Unique and redundant connexin contributions to lens development. Science (2002) 2.17
Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet (2007) 1.77
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci (2007) 1.70
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. J Med Genet (2006) 1.68
The morphology and natural history of childhood cataracts. Surv Ophthalmol (2003) 1.68
Autosomal dominant congenital cataract. Interocular phenotypic variability. Ophthalmology (1994) 1.60
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. Hum Genet (1999) 1.54
Molecular mechanism underlying a Cx50-linked congenital cataract. Am J Physiol (1999) 1.53
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. Mol Vis (2006) 1.44
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. J Med Genet (2003) 1.38
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. J Med Genet (2007) 1.35
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis (2008) 1.34
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clin Genet (2001) 1.32
Two Chinese families with pulverulent congenital cataracts and deltaG91 CRYBA1 mutations. Mol Vis (2007) 1.23
A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q. Mol Vis (2004) 1.21
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol Vis (2006) 1.20
Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract. Br J Ophthalmol (2005) 1.18
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis (2006) 1.15
Genetic and segregation analysis of congenital cataract in the Indian population. Clin Genet (1999) 1.08
[A novel GJA8 mutation in a Chinese family with autosomal dominant congenital cataract]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi (2008) 1.00
A novel connexin 50 (GJA8) mutation in a Chinese family with a dominant congenital pulverulent nuclear cataract. Mol Vis (2008) 1.00
Rapid purification of human DNA from whole blood for potential application in clinical chemistry laboratories. Clin Chem (1990) 0.96
Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet (2002) 3.34
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet (2002) 1.99
Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway. Hum Mol Genet (2004) 1.95
Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutations. PLoS Genet (2010) 1.62
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet (2004) 1.62
Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum Genet (2004) 1.60
Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. Am J Hum Genet (2009) 1.54
Nibrin functions in Ig class-switch recombination. Proc Natl Acad Sci U S A (2005) 1.41
Perioperative complications of intraventricular neuroendoscopy: a 7-year experience. Turk Neurosurg (2010) 1.41
Osteosynthesis of femoral-neck nonunion with angle blade plate and autogenous fibular graft. Int Orthop (2011) 1.41
Ostomy closure and the role of repeat endoscopic third ventriculostomy (re-ETV) in failed ETV procedures. Neurol India (2012) 1.38
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. Diabetes (2013) 1.36
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. Mol Vis (2008) 1.34
A novel mutation in the DNA-binding domain of MAF at 16q23.1 associated with autosomal dominant "cerulean cataract" in an Indian family. Am J Med Genet A (2006) 1.34
Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks. DNA Repair (Amst) (2004) 1.33
A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk. Breast Cancer Res Treat (2009) 1.30
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huët anomaly. Hum Mol Genet (2003) 1.22
Repeated hydrocephalus in recurrent intraventricular neurocysticercosis: An uncommon presentation. J Neurosci Rural Pract (2013) 1.22
The granulocyte nucleus and lamin B receptor: avoiding the ovoid. Chromosoma (2007) 1.21
A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin. Mol Vis (2006) 1.20
An inducible null mutant murine model of Nijmegen breakage syndrome proves the essential function of NBS1 in chromosomal stability and cell viability. Hum Mol Genet (2004) 1.16
A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Mol Vis (2006) 1.15
Nijmegen Breakage Syndrome mutations and risk of breast cancer. Int J Cancer (2008) 1.14
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat (2007) 1.14
The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Hum Mutat (2005) 1.13
Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition. Am J Hum Genet (2002) 1.12
Attenuation of the formation of DNA-repair foci containing RAD51 in Fanconi anaemia. Carcinogenesis (2002) 1.10
Hereditary prosopagnosia: the first case series. Cortex (2007) 1.10
The Khatri Sikh Diabetes Study (SDS): study design, methodology, sample collection, and initial results. Hum Biol (2006) 1.08
Crocodile head scales are not developmental units but emerge from physical cracking. Science (2012) 1.08
Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland. Int J Cancer (2004) 1.07
Cancer risk of heterozygotes with the NBN founder mutation. J Natl Cancer Inst (2007) 1.05
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract. Mol Vis (2009) 1.05
A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family. Mol Vis (2007) 1.05
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function. PLoS One (2010) 1.04
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure. Orphanet J Rare Dis (2007) 1.02
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP. Hum Mol Genet (2011) 1.01
SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome. Hum Genet (2004) 1.00
Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human. J Med Genet (2009) 0.98
Sutural cataract associated with a mutation in the ferritin light chain gene (FTL) in a family of Indian origin. Mol Vis (2006) 0.98
SV40 large T-antigen disturbs the formation of nuclear DNA-repair foci containing MRE11. Oncogene (2002) 0.98
The DNA-based structure of human chromosome 5 in interphase. Am J Hum Genet (2002) 0.97
Lateral intraventricular epidermoid in a child with hydrocephalus. J Pediatr Neurosci (2012) 0.97
A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol Vis (2007) 0.97
Surgical management and outcome of tuberculous atlantoaxial dislocation: a 15-year experience. Neurosurgery (2003) 0.96
Chromosome instability and nibrin protein variants in NBS heterozygotes. Eur J Hum Genet (2003) 0.96
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle (2011) 0.94
Simultaneous bilensectomy and endothelial keratoplasty for angle-supported phakic intraocular lens-induced corneal decompensation. Indian J Ophthalmol (2011) 0.93
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Pediatrics (2011) 0.93
Pulmonary functions in normal school children in the age group of 6-15 years in north India. Iran J Pediatr (2010) 0.93
The LARGE principle of cellular reprogramming: lost, acquired and retained gene expression in foreskin and amniotic fluid-derived human iPS cells. PLoS One (2010) 0.92
Intracranial hemorrhage in late hemorrhagic disease of the newborn. Indian Pediatr (2003) 0.91
Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol (2008) 0.91
Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein. Carcinogenesis (2006) 0.90
A novel "pearl box" cataract associated with a mutation in the connexin 46 (GJA3) gene. Mol Vis (2007) 0.90
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane protein. Nucleus (2010) 0.89
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome. Med Pediatr Oncol (2003) 0.89
Ring chromosome 7 in an Indian woman. J Intellect Dev Disabil (2008) 0.89
Novel EXT1 and EXT2 mutations in hereditary multiple exostoses families of Indian origin. Genet Test Mol Biomarkers (2009) 0.88
Histological analysis of lesions of the pineal region: a retrospective study of 12 years. Pathol Res Pract (2006) 0.88
R5 retrotransposons insert into a family of infrequently transcribed 28S rRNA genes of planaria. Mol Biol Evol (2003) 0.88
Brain stem infarction: a complication of microvascular decompression for trigeminal neuralgia. Neurol India (2006) 0.87
Surgery for brain abscess in children with cyanotic heart disease: An anesthetic challenge. J Pediatr Neurosci (2012) 0.87
Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15. Eur J Hum Genet (2006) 0.87
A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family. Exp Eye Res (2012) 0.86
Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med (Berl) (2008) 0.86