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Scanning and transmission electron microscopy study of anterior lens epithelium in presenile cataract.
Wu J, Zhou J, Ping X, Xu X, Cui Y, Yang H, Yin Q, Shentu X. Wu J, et al. Int Ophthalmol. 2020 Jun;40(6):1411-1418. doi: 10.1007/s10792-020-01307-6. Epub 2020 Mar 6. Int Ophthalmol. 2020. PMID: 32144529
METHODS: The anterior lens capsules (aLCs) of patients with presenile cataracts and patients with ordinary age-related cataracts were obtained from routine cataract surgery, and the 5-5.5 mm circles of the central aLC were cut in half and prepared for transmission e …
METHODS: The anterior lens capsules (aLCs) of patients with presenile cataracts and patients with ordinary age-related catarac …
Clinical features of patients featuring cataracts in a myopia-endemic area of Taiwan.
Tsai CK, Teng MC, Wu PC, Kuo HK. Tsai CK, et al. Chang Gung Med J. 2006 Jul-Aug;29(4):406-11. Chang Gung Med J. 2006. PMID: 17051839 Free article.
The distribution of cataract types for the 3 presenile cataract subgroups revealed that nuclear sclerosis contributed most to presenile cataracts in highly myopic patients (p = 0.001), and correspondingly, the posterior subcapsular opacity contributed most in the id …
The distribution of cataract types for the 3 presenile cataract subgroups revealed that nuclear sclerosis contributed most to presenile …
Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.
Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V, Gresele P, Lethagen S, Fabris F, Dufour C, Granata A, Doubek M, Pecoraro C, Koivisto PA, Heller PG, Iolascon A, Alvisi P, Schwabe D, De Candia E, Rocca B, Russo U, Ramenghi U, Noris P, Seri M, Balduini CL, Savoia A. Pecci A, et al. Hum Mutat. 2008 Mar;29(3):409-17. doi: 10.1002/humu.20661. Hum Mutat. 2008. PMID: 18059020
All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. ...
All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, pr …
Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.
Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I. Thomas S, et al. Eur J Hum Genet. 2014 Mar;22(3):344-9. doi: 10.1038/ejhg.2013.162. Epub 2013 Aug 14. Eur J Hum Genet. 2014. PMID: 23942204 Free PMC article.
We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts. An SNP-based genome-wide analysis revealed a linkage to a 13.4-MB region on chromosome 11p13 with a maximum lod score of 2.93. …
We studied a large multigenerational white British family with autosomal-dominant nystagmus, normal irides and presenile cataracts …
A novel de novo duplication mutation of PAX6 in a Chinese family with aniridia and other ocular abnormalities.
Zhuang J, Chen X, Tan Z, Zhu Y, Zhao K, Yang J. Zhuang J, et al. Sci Rep. 2014 May 2;4:4836. doi: 10.1038/srep04836. Sci Rep. 2014. PMID: 24787241 Free PMC article.
Two patients in this family, the proband and his affected son, both have bilateral aniridia, foveal hypoplasia and nystagmus. Moreover, the proband also had presenile cataracts, but his affected son did not show cataracts at the time of examination. Sequencing PAX6 …
Two patients in this family, the proband and his affected son, both have bilateral aniridia, foveal hypoplasia and nystagmus. Moreover, the …
Ultrasound biomicroscopic study of anterior segment changes after phacoemulsification and foldable intraocular lens implantation.
Pereira FA, Cronemberger S. Pereira FA, et al. Ophthalmology. 2003 Sep;110(9):1799-806. doi: 10.1016/S0161-6420(03)00623-7. Ophthalmology. 2003. PMID: 13129880 Clinical Trial.
PARTICIPANTS: Twenty-one eyes of 19 patients with senile or presenile cataracts and no other ocular illness. METHODS: Patients were examined with UBM before and 1 and 3 months after surgery. ...Each variable was measured twice in different days by the same observ …
PARTICIPANTS: Twenty-one eyes of 19 patients with senile or presenile cataracts and no other ocular illness. METHODS: Patients …
MYH9-Related Thrombocytopenia: Four Novel Variants Affecting the Tail Domain of the Non-Muscle Myosin Heavy Chain IIA Associated with a Mild Clinical Evolution of the Disorder.
Zaninetti C, De Rocco D, Giangregorio T, Bozzi V, Demeter J, Leoni P, Noris P, Ryhänen S, Barozzi S, Pecci A, Savoia A. Zaninetti C, et al. Hamostaseologie. 2019 Feb;39(1):87-94. doi: 10.1055/s-0038-1645840. Epub 2018 Jul 11. Hamostaseologie. 2019. PMID: 29996171 Free article.
Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney damage, sensorineural deafness, presenile cataracts and/or liver enzymes abnormalities. The spectrum of mutations found in MYH9 …
Patients present congenital macrothrombocytopenia and inclusions of NMMHC-IIA in leukocytes, and have a variable risk of developing kidney d …
Cloning of a human galactokinase gene (GK2) on chromosome 15 by complementation in yeast.
Lee RT, Peterson CL, Calman AF, Herskowitz I, O'Donnell JJ. Lee RT, et al. Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):10887-91. doi: 10.1073/pnas.89.22.10887. Proc Natl Acad Sci U S A. 1992. PMID: 1438294 Free PMC article.
A human cDNA encoding a galactokinase (EC 2.7.1.6) was isolated by complementation of a galactokinase-deficient (gal1-) strain of Saccharomyces cerevisiae. This cDNA encodes a predicted protein of 458 amino acids with 29% identity to galactokinase of Saccharomyces carlsber …
A human cDNA encoding a galactokinase (EC 2.7.1.6) was isolated by complementation of a galactokinase-deficient (gal1-) strain of Saccharomy …
Severe to profound deafness may be associated with MYH9-related disease: report of 4 patients.
Canzi P, Pecci A, Manfrin M, Rebecchi E, Zaninetti C, Bozzi V, Benazzo M. Canzi P, et al. Acta Otorhinolaryngol Ital. 2016 Oct;36(5):415-420. doi: 10.14639/0392-100X-702. Acta Otorhinolaryngol Ital. 2016. PMID: 27958602 Free PMC article.
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. …
MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the …
The pleiotropic expression of the myotonic dystrophy protein kinase gene illustrates the complex relationships between genetic, biological and clinical covariates of male aging.
Brisson D, Houde G, St-Pierre J, Vohl MC, Mathieu J, Gaudet D. Brisson D, et al. Aging Male. 2002 Dec;5(4):223-32. Aging Male. 2002. PMID: 12630069
The affected male patients' life expectancy at birth (53.2 years) is more than two decades below that observed in most occidental populations. The DMPK gene expression is pleiotropic and includes the premature expression of several age-related signs, symptoms and metabolic …
The affected male patients' life expectancy at birth (53.2 years) is more than two decades below that observed in most occidental pop …
12 results