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| 1 | Genotype phenotype correlation in Wilson's disease within families-a report on four south Indian families显示文摘AIM: To study the genotype phenotype correlation in Wilson's disease (WD) patients within families. METHODS: We report four unrelated families from South India with nine members affected with WD. Phenotype was classified as per international consensus phenotypic classifi cation of WD. DNA was extracted from peripheral blood and 21 exons of ATP7B gene and flanking introns were amplified by polymerase chain reaction (PCR). The PCR products were screened for mutations and the aberrant products noted on screening were sequenced. RESULTS: Four separate ATP7B mutations were found in the four families. ATP7B mutations were identical amongst affected members within each family. Three families had homozygous mutations of ATP7B gene while one family had compound heterozygous mutation, of which only one mutation was identifi ed. We noted concordance between ATP7B gene mutation and Wilson's disease phenotype amongst members within each family. The age of onset of symptoms or of detection of asymptomatic disease, baseline serum ceruloplasmin and baseline urinary copper levels were also similar in affected members of each family. Minor differences in phenotype and baseline serum ceruloplasmin level were noted in one family.CONCLUSION: We report concordance between ATP7B mutation and WD phenotype within each family with > 1 member affected with WD. Homozygous ATP7B mutation was present in 3 of the 4 families studied. Our report supports allelic dominance as a determinant of WD phenotype. However, in one family with compound heterozygous mutation, there was a similar WD phenotype which suggests that there may be other factors determining the phenotype. | S Santhosh RV Shaji CE Eapen V Jayanthi S Malathi P Finny N Thomas M Chandy G Kurian GM Chandy | 2008 | World Journal of Gastroenterology2008，14，29： | 3 |
| 2 | Subgaleal endoscopic browlift with absorbable fixation显示文摘 | Horn CE Thomas JR | 2007 | Otolaryngol Clin North Am2007，40，2： | 1 |
| 3 | Characterization of the radical trapping activity of a novel series of cyclic nitrone spin traps显示文摘 | Thomas CE Ohlweiler DF Carr AA | 1996 | J Biol Chem1996，271，： | 1 |
| 4 | Undiagnosed phaeochromocytoma mimicking severe preeclampsia in a pregnant Woman at term显示文摘 | Hudsmith JG Thomas CE Browne DA | 2006 | Int J Obstet Anesth2006，15，3： | 1 |
| 5 | Asymmetry of in tracranial hemodynamics as an indicator of mass effect in acute intracerebral hemorrage显示文摘 | Mayer SA Thomas CE Diamond BE | 1996 | Stroke1996，27，： | 1 |
| 6 | STAT1 : a modulator of chemotherapy-induced apoptosis 显示文摘 | Thomas M Finnegan CE Rogers KM | 2004 | Cancer Res2004，64，22： | 1 |
| 7 | Chondrocyte death by apoptosis is associated with cartilage matrix degradation显示文摘 | Thomas CM Fuller CJ Whittles CE et a/ | 2007 | OsteoarthritisCartilage2007，15，1： | 1 |
| 8 | Powdery mildewresistance genes in muskmelon显示文摘 | James DM Pitrat M Thomas CE | 1987 | Jouranl of the American Society for Horticultural Science1987，112，1： | 1 |
| 9 | Myasthenic crisis : clinical features, mortality, comp lications, and risk factors for prolonged intubation显示文摘 | Thomas CE Mayer SA Gungor Y | 1997 | Neurology1997，48，： | 1 |
| 10 | Aseptic meningitis after posterior fossa surgery treated by pseudomeningocele closure 显示文摘 | Hillier CE Stevens AP Thomas F | 2000 | JNeurol Neurosurg Psychiatry2000，68，2： | 1 |
| 11 | Association between an MHC class II allele and clearance of hepatitis B virus in the Gambia显示文摘 | Thursz MR Kwiatkowski D Allsopp CE Greenwood BM Thomas HC Hill AV | 1995 | N Engl J Med1995，332，16： | 1 |
| 12 | A female in vivo haploid-induction system via mutagenesis of egg cell-specific peptidases显示文摘Crop breeding schemes can be significantly accelerated by using(doubled)haploid plants.In vivo haploid induction has been applied in plant breeding for decades but is still not available for all crops and genotypes,and haploidization rates are generally very low.Therefore,methodological improvements to and new concepts for haploidization are required.Here,we report a novel system for the induction of haploid plants by mutating genes encoding egg cell-specific aspartic endopeptidases(ECSs).We show that after successful sperm–egg cell fusion,ECSs play a critical role to ensure male and female nucleus fusion after fertilization.The ecs1 ecs2 double mutant can induce haploids by both selfing and hybridization in Arabidopsis and ECS mutation is also capable of producing haploids in rice.In summary,our study develops a novel approach for maternal haploidization and provides new insights into the molecular basis of fertilization. | Xuecheng Zhang Ce Shi Siling Li Bo Zhang Pan Luo Xiongbo Peng Peng Zhao Thomas Dresselhaus Meng-Xiang Sun | 2023 | Molecular Plant2023，16，2： | 1 |
| 13 | Chondrocyte death byapoptosis is associated with cartilage matrix degradation显示文摘 | Thomas CM Fuller CJ Whittles CE | 2007 | Osteo-arthritis Cartilage2007，15，1： | 1 |
| 14 | The syndrome of irrevers- ible acidosis after prolonged propofol infusion 显示文摘 | Kumar MA Urrutia VC Thomas CE | 2005 | Neurocrit Care2005，3，3： | 1 |
| 15 | Effect of acid suppression therapy on gastroesophageal reflux and cough in idiopathic pulmonary fibrosis : an intervention study显示文摘 | Kilduff CE Counter MJ Thomas GA | 2014 | Cough2014，10，： | 1 |
| 16 | Poor prognosis in pro- teinuric type 2 diabetic patients with retinopathy:insights from the RENAAL study 显示文摘 | Parring HH Mogensen CE Thomas MC | 2005 | Q J Med2005，98，2： | 1 |
| 17 | The syndrome of irreversible acidosis after prolonged propofol infusion显示文摘 | Kumar MA Urrutia VC Thomas CE | 2005 | Neurocrit Care2005，3，3： | 1 |
| 18 | Asymmetry of intracranial hemodynamics as indicator of mass effect in acute intracerebral hemorrhage显示文摘 | Mayer SA Thomas CE Diamond BE | 1996 | Stroke1996，27，： | 1 |
| 19 | Integration of genomic and metabonomic data in systems biology -are we 'there' yet?显示文摘 | Thomas CE Ganji G | 2006 | Curr Opin Drug Discoy Devel2006，9，1： | 1 |
| 20 | Neurologic complications of the Novacor left ventricular assist device显示文摘 | Thomas CE Jichici D Petrucci R | 2001 | Ann Thorac Surg2001，72，4： | 1 |
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