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Oculocerebrorenal Syndrome

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Megalin: a Novel Determinant of Renin-Angiotensin System Activity in the Kidney?

Yuan Sun, Xifeng Lu, A H Jan Danser,

PURPOSE OF REVIEW:Megalin is well known for its role in the reabsorption of proteins from the ultrafiltrate. Recent studies suggest that megalin also reabsorbs renin and angiotensinogen. Indeed, without megalin urinary renin and angiotensinogen levels massively increase, and even prorenin becomes detectable in urine. RECENT FINDINGS:Intriguingly, megalin might also contribute ... Read more >>

Curr. Hypertens. Rep. (Current hypertension reports)
[2020, 22(4):30]

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A case of Type 1 Dent disease presenting with isolated persistent proteinuria.

Tülin Güngör, Fehime Kara Eroğlu, Fatma Yazılıtaş, Gökçe Gür, Evrim Kargın Çakıcı, Michael Ludwig, Mehmet Bülbül,

Dent disease is a rare X-linked recessive tubular disorder, characterized by the triad of low molecular-weight proteinuria, hypercalciuria, nephrocalcinosis and/or nephrolithiasis. It is caused by mutations in the CLCN5 gene or OCRL gene. Thirty to 80% of affected males develop end-stage kidney disease between the ages of 30 and 50 ... Read more >>

(Turkish Archives of Pediatrics/Türk Pediatri Arşivi)
[2020, 55(1):72-75]

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Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations.

Natali Acosta-Tapia, Johan Fabian Galindo, Rosa Baldiris,

Inositol polyphosphate 5-phosphatase (OCRL-1) participates in the regulation of multiple cellular processes, through the conversion of phosphatidylinositol 4,5-phosphate to phosphatidylinositol 4-phosphate. Mutations in this protein are related to Lowe syndrome (LS) and Dent-2 disease. In this study, the impact of Lowe syndrome mutations on the interactions of OCRL-1 with other ... Read more >>

J Chem Inf Model (Journal of chemical information and modeling)
[2020, 60(2):1019-1027]

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Genetic Testing in Pediatric Kidney Disease.

Veronica Arora, Kanav Anand, Ishwar Chander Verma,

The advent of next gene sequencing technology has led to the publication of a profusion of papers on monogenic contributions to pediatric kidney disorders. It started with the discovery of mutations in the podocin gene in steroid resistant nephrotic syndrome (SRNS). It is realized now that genetic disorders contribute to ... Read more >>

Indian J Pediatr (Indian journal of pediatrics)
[2020, :]

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Genomic sequencing for newborn screening: Results of the NC NEXUS project

Tamara Roman, Stephanie Crowley, Myra Roche, Ann Katherine Foreman, Julianne O'Daniel, Bryce Seifert, Kristy Lee, Alicia Brandt, Chelsea Gustafson, Daniela DeCristo, Natasha Strande, Lori Ramkissoon, Laura Milko, Phillips Owen, Sayanty Roy, Mai Xiong, Ryan Paquin, Rita Butterfield, Megan Lewis, Katherine Souris, Donald Bailey, Christine Rini, Jessica Booker, Bradford Powell, Karen Weck, Cynthia Powell, Jonathan Berg,

Newborn screening (NBS) was established as a public health program in the 1960s and is crucial for facilitating detection of certain medical conditions in which early intervention can prevent serious, life-threatening health problems. Genomic sequencing can potentially expand the screening for rare hereditary disorders, but many questions surround its possible ... Read more >>

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Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development.

Kristin M Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A Wolfe, Joshi A Stephen, David R Adams, Thomas Markello, Cynthia J Tifft, Robert Settlage, William A Gahl, Graydon B Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y Albert Pan,

A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes. We addressed this by investigating a key pair of endocytic adaptor proteins, PH domain containing endocytic trafficking adaptor 1 and 2 (PHETA1/2, also known ... Read more >>

Dis Model Mech (Disease models & mechanisms)
[2020, :]

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Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.

Suman Sethi, Nitin Sethi, Sudhir Mehta, Simran Kaur, Vikas Makkar, P M Sohal,

The oculocerebrorenal (OCRL) syndrome, also known as Lowe syndrome (LS), is an X-linked recessive disorder that predominantly affects males and is characterized by growth and mental retardation, congenital cataract and renal Fanconi syndrome. OCRL1 is the gene responsible for LS and encodes an inositol polyphosphate-5-phosphatase. We report a male child ... Read more >>

Saudi J Kidney Dis Transpl (Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia)
[2020, 31(1):285-288]

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[Clinical and genetic analysis of an infant with Lowe syndrome caused by exonic duplication of OCRL gene].

Zhouxian Bai, Lina Liu, Shuang Hu, Xiangdong Kong,

OBJECTIVE:To explore the genetic basis of an infant featuring congenital cataract, developmental delay and proteinuria. METHODS:Clinical data and peripheral blood samples of the family were collected. Potential variants were screened by using targeted capture and high-throughput sequencing on a NextSeq 500 platform. Suspected variant was verified by quantitative PCR. Pathogenicity ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2020, 37(1):28-32]

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A role for OCRL in glomerular function and disease.

Rebecca Preston, Richard W Naylor, Graham Stewart, Agnieszka Bierzynska, Moin A Saleem, Martin Lowe, Rachel Lennon,

BACKGROUND:Lowe syndrome and Dent-2 disease are caused by mutations in the OCRL gene, which encodes for an inositol 5-phosphatase. The renal phenotype associated with OCRL mutations typically comprises a selective proximal tubulopathy, which can manifest as Fanconi syndrome in the most extreme cases. METHODS:Here, we report a 12-year-old male with ... Read more >>

Pediatr. Nephrol. (Pediatric nephrology (Berlin, Germany))
[2020, 35(4):641-648]

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Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.

Katsusuke Yamamoto, Yasuhiro Hasegawa, Yasuhisa Ohata, Kenichi Satomura, Yoshimi Mizoguchi, Tsunesuke Shimotsuji, Takehisa Yamamoto,

The oculocerebrorenal disorder of Lowe syndrome is an X-linked mutation in the gene oculocerebrorenal syndrome of Lowe 1 (OCRL), characterized by the triad of congenital cataracts, severe intellectual impairment, and renal tubular dysfunction. Manifestations of phenotype in female carriers and patients are extremely rare. We present a female case with ... Read more >>

CEN Case Rep (CEN case reports)
[2019, :]

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Effects of Proximal Tubule Shortening on Protein Excretion in a Lowe Syndrome Model.

Megan L Gliozzi, Eugenel B Espiritu, Katherine E Shipman, Youssef Rbaibi, Kimberly R Long, Nairita Roy, Andrew W Duncan, Matthew J Lazzara, Neil A Hukriede, Catherine J Baty, Ora A Weisz,

BACKGROUND:Lowe syndrome (LS) is an X-linked recessive disorder caused by mutations in OCRL, which encodes the enzyme OCRL. Symptoms of LS include proximal tubule (PT) dysfunction typically characterized by low molecular weight proteinuria, renal tubular acidosis (RTA), aminoaciduria, and hypercalciuria. How mutant OCRL causes these symptoms isn't clear. METHODS:We examined ... Read more >>

J. Am. Soc. Nephrol. (Journal of the American Society of Nephrology : JASN)
[2020, 31(1):67-83]

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Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition.

Fay J Dickson, John A Sayer,

The abnormal deposition of calcium within renal parenchyma, termed nephrocalcinosis, frequently occurs as a result of impaired renal calcium handling. It is closely associated with renal stone formation (nephrolithiasis) as elevated urinary calcium levels (hypercalciuria) are a key common pathological feature underlying these clinical presentations. Although monogenic causes of nephrocalcinosis ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(1):]

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Microspherophakia in a 47, XYY Syndrome Patient: A Case Report.

Maria Lourdes Rubalcava-Soberanis, Bani Antonio-Aguirre, Cristina Mendoza Velásquez, Andric Christopher Perez-Ortiz, Claudia Palacio-Pastrana,

47, XYY syndrome affects males with variable phenotypic expression. Around 80-99% of affected individuals present low-set ears, malar flattening, motor delay, and tall stature. Yet, some cases lack signs or symptoms or are barely noticeable. There are four reports of ocular involvement among these individuals - one with unusual multiple ... Read more >>

Case Rep Ophthalmol (Case Reports in Ophthalmology)
[2020, 11(1):1-7]

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New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management.

Vrinda Saraff, Ruchi Nadar, Wolfgang Högler,

X-linked hypophosphataemia (XLH) is due to mutations in phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) and represents the most common heritable form of rickets. In this condition, the hormone fibroblast growth factor 23 (FGF23) is produced in excessive amounts for still unknown reasons, and causes renal ... Read more >>

Paediatr Drugs (Paediatric drugs)
[2020, 22(2):113-121]

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Phosphoinositide 5-phosphatases SKIP and SHIP2 in ruffles, the endoplasmic reticulum and the nucleus: An update.

Ana Raquel Ramos, Somadri Ghosh, Tara Suhel, Clément Chevalier, Eric Owusu Obeng, Bohumil Fafilek, Pavel Krejci, Benjamin Beck, Christophe Erneux,

Phosphoinositides (PIs) are phosphorylated derivatives of phosphatidylinositol. They act as signaling molecules linked to essential cellular mechanisms in eukaryotic cells, such as cytoskeleton organization, mitosis, polarity, migration or invasion. PIs are phosphorylated and dephosphorylated by a large number of PI kinases and PI phosphatases acting at the 5-, 4- and ... Read more >>

Adv Biol Regul (Advances in biological regulation)
[2020, 75:100660]

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Lowe syndrome with extremely short stature: growth hormone deficiency may be the pathogeny.

Chengjun Dai, Liying Wang, Youli Li, Zhichao Zheng, Jieqi Qian, Chaoban Wang, Zishuo Liu, Xiaoou Shan,

Lowe syndrome is an x-linked disorder characterized by congenital cataracts, nervous system abnormalities and renal tubular dysfunction. With the rising number of reported cases, more patients are found to suffer from endocrine abnormalities. Hereby, three Chinese patients with typical symptoms and extremely short stature were described. The OCRL gene was ... Read more >>

Growth Factors (Growth factors (Chur, Switzerland))
[2019, 37(3-4):170-177]

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Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.

Bixia Zheng, Qiuxia Chen, Chunli Wang, Wei Zhou, Ying Chen, Guixia Ding, Zhanjun Jia, Aihua Zhang, SongMing Huang,

BACKGROUND:Lowe syndrome is a rare X-linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract, infantile congenital hypotonia, and proximal renal tubular defect. METHODS:Four children who met ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2019, 7(9):e876]

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Rare, rarer, it still has not happened.

Branimir K Hackenberger,

Croat. Med. J. (Croatian medical journal)
[2019, 60(6):565-569]

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Novel mutation in OCRL leading to a severe form of Lowe syndrome.

Feng-Qi Zhou, Qi-Wei Wang, Zhen-Zhen Liu, Xu-Lin Zhang, Dong-Ni Wang, Mei-Mei Dongye, Hao-Tian Lin, Wei-Rong Chen,

AIM:To investigate the phenotype and genotype of a family with X-linked recessive Lowe syndrome. METHODS:All the members in the Chinese pedigree underwent comprehensive ophthalmologic and systemic examinations. Genomic DNA was isolated from peripheral blood of the pedigree members and 100 unrelated healthy Chinese subjects. Direct sequencing was performed to screen ... Read more >>

Int J Ophthalmol (International journal of ophthalmology)
[2019, 12(7):1057-1060]

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Epidermoid cyst of the tonsil: a rare finding.

Rachida Bouatay, Sondos Jellali, Nouha Abdejelil, Jamel Koubaa,

Epidermoid cysts (ECs) are benign lesions that can be encountered throughout the body, but with a low incidence in the head and neck (1.6 to 7%). In oral cavity, the most common affected site is floor of the mouth, but tonsillar location remains extremely rare (less than 0.01%). Here we ... Read more >>

Pan Afr Med J (The Pan African medical journal)
[2019, 34:4]

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Deficiency in the endocytic adaptor protein PHETA1/2 impairs renal and craniofacial development

Kristin Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne Wolfe, Joshi Stephen, David Adams, Thomas Markello, Cynthia Tifft, William Gahl, Graydon Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Albert Pan,

Abstract A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes. We addressed this by investigating a key pair of endocytic adaptor proteins, PH domain containing endocytic trafficking adaptor 1 and 2 (PHETA1/2, also ... Read more >>

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Phosphoinositides and the Fate of Legionella in Phagocytes.

A Leoni Swart, Hubert Hilbi,

Legionella pneumophila is the causative agent of a severe pneumonia called Legionnaires' disease. The environmental bacterium replicates in free-living amoebae as well as in lung macrophages in a distinct compartment, the Legionella-containing vacuole (LCV). The LCV communicates with a number of cellular vesicle trafficking pathways and is formed by a ... Read more >>

Front Immunol (Frontiers in immunology)
[2020, 11:25]

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Proximal renal tubular acidosis with and without Fanconi syndrome.

Ibrahim Kashoor, Daniel Batlle,

Proximal renal tubular acidosis (RTA) is caused by a defect in bicarbonate (HCO3-) reabsorption in the kidney proximal convoluted tubule. It usually manifests as normal anion-gap metabolic acidosis due to HCO3- wastage. In a normal kidney, the thick ascending limb of Henle's loop and more distal nephron segments reclaim all ... Read more >>

Kidney Res Clin Pract (Kidney research and clinical practice)
[2019, 38(3):267-281]

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Epilepsy and cranial hemangioma in Lowe syndrome.

Lorenzo Mongardi, Giorgio Mantovani, Alba Scerrati, Pasquale De Bonis, Michele Alessandro Cavallo,

Acta Neurol Belg (Acta neurologica Belgica)
[2019, :]

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[Clinical and molecular genetic analysis of a pediatric patient with Lowe syndrome].

Yongling Zhang, Ru Li, Xiangyi Jing, Xuewei Tang, Fucheng Li, Cao Liao,

OBJECTIVE:To explore the genetic etiology for a child with ocular dysplasia. METHODS:Clinical examination was carried out. Medical history of the child was collected. Genomic DNA was extracted from peripheral blood samples. Chromosomal microarray analysis (CMA) was used to detect potential genomic copy number variations. RESULTS:Ultrasonography revealed cataracts in both eyes ... Read more >>

Zhonghua Yi Xue Yi Chuan Xue Za Zhi (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics)
[2019, 36(6):613-615]

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