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1874 1
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1882 2
1883 3
1884 1
1885 1
1886 3
1887 1
1888 2
1892 1
1893 1
1895 1
1897 2
1898 3
1900 5
1901 1
1902 2
1903 1
1911 2
1912 2
1913 1
1918 1
1922 1
1923 1
1925 2
1926 1
1928 2
1929 3
1931 1
1932 2
1933 6
1934 2
1936 4
1937 1
1938 1
1939 3
1941 2
1942 3
1943 1
1944 9
1945 6
1946 14
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1948 15
1949 10
1950 24
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1952 19
1953 29
1954 20
1955 32
1956 21
1957 23
1958 21
1959 25
1960 27
1961 31
1962 36
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1964 47
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1966 53
1967 64
1968 75
1969 81
1970 87
1971 97
1972 74
1973 85
1974 85
1975 73
1976 85
1977 100
1978 114
1979 81
1980 115
1981 113
1982 134
1983 138
1984 129
1985 144
1986 182
1987 182
1988 155
1989 201
1990 187
1991 200
1992 220
1993 221
1994 222
1995 251
1996 265
1997 278
1998 281
1999 276
2000 321
2001 315
2002 336
2003 342
2004 400
2005 405
2006 470
2007 471
2008 502
2009 541
2010 576
2011 637
2012 696
2013 745
2014 740
2015 798
2016 742
2017 738
2018 787
2019 776
2020 923
2021 1080
2022 1046
2023 880
2024 862
2025 827
2026 1

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20,641 results

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Page 1
Modelling Lowe syndrome and Dent-2 disease using zebrafish.
Lowe M. Lowe M. Front Cell Dev Biol. 2025 Jul 24;13:1637005. doi: 10.3389/fcell.2025.1637005. eCollection 2025. Front Cell Dev Biol. 2025. PMID: 40778266 Free PMC article. Review.
Lowe syndrome and Dent-2 disease are caused by mutations in the gene encoding OCRL, an inositol 5-phosphatase. ...Alongside other models, zebrafish has proven its worth in studying Lowe syndrome and Dent-2 disease and should continue to serve as a valuable model goi …
Lowe syndrome and Dent-2 disease are caused by mutations in the gene encoding OCRL, an inositol 5-phosphatase. ...Alongside other mod …
Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature.
Tatsi P, Papanikolaou GE, Chartomatsidou T, Papoulidis I, Athanasiadis A, Najdecki R, Timotheou E. Tatsi P, et al. J Med Case Rep. 2019 Nov 2;13(1):325. doi: 10.1186/s13256-019-2263-9. J Med Case Rep. 2019. PMID: 31676009 Free PMC article. Review.
BACKGROUND: Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans-Golgi network. Point …
BACKGROUND: Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL g …
The oculocerebrorenal syndrome of Lowe: an update.
Bökenkamp A, Ludwig M. Bökenkamp A, et al. Pediatr Nephrol. 2016 Dec;31(12):2201-2212. doi: 10.1007/s00467-016-3343-3. Epub 2016 Mar 24. Pediatr Nephrol. 2016. PMID: 27011217 Free PMC article. Review.
The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants have not only been found in classic Lowe syndrome, but also in patients with a predominantly renal phenotype classified as Dent diseas …
The causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1. OCRL variants h …
Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects.
Recker F, Reutter H, Ludwig M. Recker F, et al. J Pediatr Genet. 2013 Jun;2(2):53-68. doi: 10.3233/PGE-13049. J Pediatr Genet. 2013. PMID: 27625841 Free PMC article. Review.
OCRL mutations were not only found in classic Lowe syndrome, but also in milder affected patients, classified as having Dent-2 disease. ...In this review, we have included well-established findings and the most recent progress in understanding Lowe syndrome and Dent …
OCRL mutations were not only found in classic Lowe syndrome, but also in milder affected patients, classified as having Dent-2 diseas …
The role of the Lowe syndrome protein OCRL in the endocytic pathway.
Sharma S, Skowronek A, Erdmann KS. Sharma S, et al. Biol Chem. 2015 Dec;396(12):1293-300. doi: 10.1515/hsz-2015-0180. Biol Chem. 2015. PMID: 26351914 Review.
Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized by renal defects. Lowe syndrome is furthermore characterized by defects of the eye (congenital cataracts) and nervous system (mental d …
Mutations of the inositol-5-phosphatase OCRL cause Lowe syndrome and Dent-II disease. Both are rare genetic disorders characterized b …
Oculocerebral syndrome of Lowe.
Lowe C. Lowe C. J Glaucoma. 2005 Jun;14(3):179-80. doi: 10.1097/01.ijg.0000158852.92484.88. J Glaucoma. 2005. PMID: 15870596 No abstract available.
Management of cataract surgery in Lowe syndrome.
Eibenberger K, Rezar-Dreindl S, Pusch F, Schmidt-Erfurth U, Stifter E. Eibenberger K, et al. Int J Ophthalmol. 2022 Jul 18;15(7):1198-1202. doi: 10.18240/ijo.2022.07.22. eCollection 2022. Int J Ophthalmol. 2022. PMID: 35919319 Free PMC article.
AIM: To evaluate the ophthalmic and anesthesiologic management of cataract surgery in children with Lowe syndrome receiving lens removal, the development and management of secondary glaucoma. ...CONCLUSION: Bilateral simultaneous cataract surgery under general anesthesia i …
AIM: To evaluate the ophthalmic and anesthesiologic management of cataract surgery in children with Lowe syndrome receiving lens remo …
The cellular and physiological functions of the Lowe syndrome protein OCRL1.
Mehta ZB, Pietka G, Lowe M. Mehta ZB, et al. Traffic. 2014 May;15(5):471-87. doi: 10.1111/tra.12160. Epub 2014 Mar 7. Traffic. 2014. PMID: 24499450 Free PMC article. Review.
Two related disorders, oculocerebrorenal syndrome of Lowe (OCRL) and Dent-2 disease, are caused by mutation of the inositol 5-phosphatase OCRL1. ...Recently developed animal models have managed to recapitulate features of Lowe syndrome and Dent-2 disease, and reveal …
Two related disorders, oculocerebrorenal syndrome of Lowe (OCRL) and Dent-2 disease, are caused by mutation of the inositol 5-phospha …
Structure and function of the Lowe syndrome protein OCRL1.
Lowe M. Lowe M. Traffic. 2005 Sep;6(9):711-9. doi: 10.1111/j.1600-0854.2005.00311.x. Traffic. 2005. PMID: 16101675 Free article. Review.
Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder with the hallmark features of congenital cataracts, mental retardation and Fanconi syndrome of the kidney proximal tubules. ...I will then discuss possible mechanisms by which loss of OCRL1 may bring about c …
Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder with the hallmark features of congenital cataracts, mental retardat …
Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.
Goodman CP, Park H, Mladenov GD, Raymond SL, Sundin A, Radulescu A, Khan FA. Goodman CP, et al. Am J Case Rep. 2023 Mar 24;24:e938248. doi: 10.12659/AJCR.938248. Am J Case Rep. 2023. PMID: 36959724 Free PMC article. Review.
CASE REPORT Here we present a case of a 9-year-old boy with Lowe syndrome who presented with multiple cystic masses found in the perianal region. ...However, after diagnostic imaging was performed, these lesions were found to be epidermal cysts, an infrequent manifestation …
CASE REPORT Here we present a case of a 9-year-old boy with Lowe syndrome who presented with multiple cystic masses found in the peri …
20,641 results
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