Results 11 to 20 of about 1,383 (138)

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report [PDF]

Case Reports in Nephrology and Dialysis
Introduction: Dent disease (DD) is an X-linked recessive renal disorder characterized by features of incomplete Fanconi syndrome. DD varies in clinical presentation, manifesting with proteinuria alone or in combination with nephrocalcinosis ...
Dorella Del Prete, Monica Ceol, Alessandra Giannella, Giulio Ceolotto, Elena Sgrò, Giovanna Priante, Marny Fedrigo, Franca Anglani, Federico Nalesso   +8 more
doaj   +2 more sources

Molecular cytogenetic characterization of isolated recurrent 4q35.2 microduplication in Chinese population: a seven-year single-center retrospective study [PDF]

BMC Pregnancy and Childbirth
Background With the extensive use of chromosomal microarray analysis (CMA), an increasing number of variants of uncertain significance (VOUS) have been detected.
Jianlong Zhuang, Qiulan Wei, Yuying Jiang, Shuhong Zeng, Haijuan Lou, Na Zhang, Chunnuan Chen   +6 more
doaj   +2 more sources

OCRL1 Deficiency Affects the Intracellular Traffic of ApoER2 and Impairs Reelin-Induced Responses [PDF]

Biomolecules
Lowe Syndrome (LS) is a rare X-linked disorder characterized by renal dysfunction, cataracts, and several central nervous system (CNS) anomalies.
Luz M. Fuentealba, Héctor Pizarro, María-Paz Marzolo   +2 more
doaj   +2 more sources

Identifying preeclampsia-associated key module and hub genes via weighted gene co-expression network analysis [PDF]

Scientific Reports
Preeclampsia (PE) is a common hypertensive disease in women with pregnancy. With the development of bioinformatics, WGCNA was used to explore specific biomarkers to provide therapy targets efficiently.
Jie Li, Lingling Jiang, Haili Kai, Yang Zhou, Jiachen Cao, Weichun Tang   +5 more
doaj   +2 more sources

Lowe Syndrome: A Complex Clinical Diagnosis with a Novel Mutation in the OCRL Gene [PDF]

Journal of Child Science, 2021
AbstractLowe syndrome (LS) is a rare X-linked condition having a clinical triad of congenital cataracts, intellectual disability, and progressive tubular nephropathy. Although the easily recognizable symptom complex usually evolves by infancy, a unifying diagnosis is often missed. We present a young boy with a prolonged history of multisystem affection,
Akanksha C. Parikh, Pradnya Gadgil
openaire   +1 more source

Chronic renal failure revealing a Lowe’s syndrome. First case report from an Algerian family. [PDF]

Batna Journal of Medical Sciences, 2023
The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder the causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1.
Ghalia Khellaf, Soumia Missoum, Amel Gazit, Fatima Abib, Ali Benziane   +4 more
doaj   +1 more source

Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations

Genetics Research, 2022
Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang, Shugang Wang, Ruoque Mao, Haidong Fu, Jingjing Wang, Huijun Shen, Zhihong Lu, Junyi Chen, Yu Bao, Chunyue Feng, En Yin Lai, Qing Ye, Jianhua Mao   +12 more
doaj   +1 more source

Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome [PDF]

American Journal of Medical Genetics Part A, 2012
AbstractDisturbances in the form of microduplications and microdeletions have been found throughout the genome and have been associated with autism, intellectual disability, and recognizable malformation syndromes. In our study of 187 probands with autism, we have identified a duplication in Xq25 including full gene duplication of OCRL and six flanking
Richard J, Schroer, Arthur L, Beaudet, Marwan, Shinawi, Trilochan, Sahoo, Ankita, Patel, Qin, Sun, Cindy, Skinner, Roger E, Stevenson   +7 more
openaire   +2 more sources

Initial Effect of Recombinant Human Growth Hormone Treatment in a Patient with Löwe Syndrome

Children, 2023
Objectives: Löwe syndrome (the oculocerebrorenal syndrome of Löwe, OCRL, OMIM #309000, ORPHA: 534) is a very rare multisystem X-linked disorder characterized by ocular, kidney and nervous system anomalies.
Violeta Iotova, Teodora Karamfilova, Mariya Levkova, Mariya Gaydarova, Sonya Galcheva, Dimitrichka Bliznakova   +5 more
doaj   +1 more source

Whole blood gene expression moderates associations between AD biomarkers and cognitive decline in cognitively unimpaired older adults. [PDF]

Alzheimers Dement
Abstract INTRODUCTION Early biological pathways explaining the risk for Alzheimer's disease (AD)–related cognitive decline remain poorly understood. METHODS Using linear mixed‐effects models, we investigated whether whole blood gene expression (RNA sequencing) moderates the relationship between AD biomarkers measured by amyloid beta (Aβ) and tau‐PET ...
Klinger HM, Seto M, Janve VA, Brown JA, Clifton M, Birkenbihl C, Coughlan GT, Townsend DL, Properzi M, Zyski J, Wang TC, Amariglio RE, Papp KV, Rentz DM, Yang HS, Chhatwal J, Donohue MC, Raman R, Rissman RA, Aisen P, Johnson KA, Sperling RA, Dumitrescu L, Hohman T, Buckley RF.   +24 more
europepmc   +2 more sources