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Ataxia Telangiectasia in Ophthalmology

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A Dual Role of ATM in Ischemic Preconditioning and Ischemic Injury.

Guang-Hui Xie, Han-Jun Dai, Fang Liu, Ying-Pei Zhang, Li Zhu, Jun-Jie Nie, Jian-Hua Wu,

The ataxia-telangiectasia mutated (ATM) protein is regarded as the linchpin of cellular defenses to stress. Deletion of ATM results in strong oxidative stress and degenerative diseases in the nervous system. However, the role of ATM in neuronal ischemic preconditioning and lethal ischemic injury is still largely unknown. In this study, ... Read more >>

Cell. Mol. Neurobiol. (Cellular and molecular neurobiology)
[2019, :]

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Neuro-ophthalmic manifestations of the phakomatoses.

Konstantinos A A Douglas, Vivian Paraskevi Douglas, Dean M Cestari,

PURPOSE OF REVIEW:The phakomatoses are a group of inherited disorders with variable clinical manifestations that are characterized by brain, cutaneous, ocular and other distinct lesions in multiple organs. Correctly recognizing the neuro-ophthalmic signs and symptoms can lead to early diagnosis and treatment. The group is composed of neurofibromatosis (type 1 ... Read more >>

Curr Opin Ophthalmol (Current opinion in ophthalmology)
[2019, 30(6):434-442]

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Using Transcriptomic Analysis to Assess Double-Strand Break Repair Activity: Towards Precise in vivo Genome Editing.

Giovanni Pasquini, Virginia Cora, Anka Swiersy, Kevin Achberger, Lena Antkowiak, Brigitte Müller, Tobias Wimmer, Sabine Anne-Kristin Fraschka, Nicolas Casadei, Marius Ueffing, Stefan Liebau, Knut Stieger, Volker Busskamp,

Mutations in more than 200 retina-specific genes have been associated with inherited retinal diseases. Genome editing represents a promising emerging field in the treatment of monogenic disorders, as it aims to correct disease-causing mutations within the genome. Genome editing relies on highly specific endonucleases and the capacity of the cells ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(4):]

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Prognostic relevance of ATM protein in uveal melanoma and its association with clinicopathological factors.

Jayanti Jha, Mithalesh Kumar Singh, Lata Singh, Neelam Pushker, Mandeep Singh Bajaj, Seema Sen, Seema Kashyap,

PURPOSE:Uveal melanoma (UM) is an intraocular malignancy commonly arising from choroid which can cause visual loss or metastasis. Ataxia-telangiectasia mutated (ATM) protein is an activator of DNA damage response and its role in uveal melanoma (UM) is still unexplored. Therefore, the study aims to detect the expression and localization of ... Read more >>

Int. J. Clin. Oncol. (International journal of clinical oncology)
[2019, 24(12):1526-1535]

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Protective effects of SND1 in retinal photoreceptor cell damage induced by ionizing radiation.

Xuyang Yao, Mengying Zhai, Lingyi Zhou, Liu Yang,

Staphylococcal nuclease and tudor domain containing 1 (SND1) has multiple functions in a variety of cellular processes. Here, we assessed the effects of SND1 in cellular DNA damage after ionizing radiation (IR). Knocking down SND1 in the mouse-derived photoreceptor 661 W cell line markedly inhibited cell proliferation and increased apoptosis after ... Read more >>

Biochem. Biophys. Res. Commun. (Biochemical and biophysical research communications)
[2019, 514(3):919-925]

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Large-scale integrated analysis of ovarian cancer tumors and cell lines identifies an individualized gene expression signature for predicting response to platinum-based chemotherapy.

Jie Sun, Siqi Bao, Dandan Xu, Yan Zhang, Jianzhong Su, Jiaqi Liu, Dapeng Hao, Meng Zhou,

Heterogeneity in chemotherapeutic response is directly associated with prognosis and disease recurrence in patients with ovarian cancer (OvCa). Despite the significant clinical need, a credible gene signature for predicting response to platinum-based chemotherapy and for guiding the selection of personalized chemotherapy regimens has not yet been identified. The present study ... Read more >>

Cell Death Dis (Cell death & disease)
[2019, 10(9):661]

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Expression of BAP1 and ATM proteins: Association with AJCC tumor category in uveal melanoma.

Jayanti Jha, Mithalesh Kumar Singh, Lata Singh, Neelam Pushker, Mandeep Singh Bajaj, Seema Sen, Seema Kashyap,

BACKGROUND:Our aim is to detect the association of BAP1 with ATM protein with AJCC tumor category and its prognostic significance. METHODS:Based on AJCC tumor category, 69 patients samples were categorized into group A (LBD > 15 mm & tumor thickness ≥ 8 mm) and group B (LBD ≤ 15 mm & tumor thickness < 8 mm) subjected to ... Read more >>

Ann Diagn Pathol (Annals of diagnostic pathology)
[2020, 44:151432]

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Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey.

Hiroya Ono, Yuko Shimizu-Motohashi, Kazushi Maruo, Eri Takeshita, Akihiko Ishiyama, Takashi Saito, Hirofumi Komaki, Eiji Nakagawa, Masayuki Sasaki,

OBJECTIVE:The diagnosis of childhood-onset cerebellar ataxia (CA) is often challenging due to variations in symptoms and etiologies. Despite the known regional differences in the prevalence of etiologies underlying CA, the frequency and characteristics of CA in Japan remain unclear. We conducted a questionnaire-based survey to identify the clinical characteristics of ... Read more >>

Brain Behav (Brain and behavior)
[2019, 9(10):e01392]

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The Emerging Role of Senescence in Ocular Disease.

Parameswaran G Sreekumar, David R Hinton, Ram Kannan,

Cellular senescence is a state of irreversible cell cycle arrest in response to an array of cellular stresses. An important role for senescence has been shown for a number of pathophysiological conditions that include cardiovascular disease, pulmonary fibrosis, and diseases of the skin. However, whether senescence contributes to the progression ... Read more >>

Oxid Med Cell Longev (Oxidative Medicine and Cellular Longevity)
[2020, 2020:2583601]

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Stem Cell Therapies: A Way to Promising Cures.

Khalid Nawab, Deepak Bhere, Anthony Bommarito, Muhammad Mufti, Awais Naeem,

Stem cells carry the remarkable ability to differentiate into different cell types while retaining the capability to self-replicate and maintain the characteristics of their parent cells, referred to as potency. Stem cells have been studied extensively to better understand human development and organogenesis. Because of advances in stem cell-based therapies, ... Read more >>

Cureus (Cureus)
[2019, 11(9):e5712]

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Classification and differential diagnosis of Wilson's disease.

Wieland Hermann,

Wilson's disease is characterized by hepatic and extrapyramidal movement disorders (EPS) with variable manifestation primarily between age 5 and 45. This variability often makes an early diagnosis difficult. A classification defines different clinical variants of Wilson's disease, which enables classifying the current clinical findings and making an early tentative diagnosis. ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2019, 7(Suppl 2):S63]

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Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function.

Bret A Moore, Ann M Flenniken, Dave Clary, Ata S Moshiri, Lauryl M J Nutter, Zorana Berberovic, Celeste Owen, Susan Newbigging, Hibret Adissu, Mohammad Eskandarian, Colin McKerlie, , Sara M Thomasy, K C Kent Lloyd, Christopher J Murphy, Ala Moshiri,

Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens. Here we present novel genes that may be causative for oculocutaneous disease in humans, discovered as part of a ... Read more >>

Sci Rep (Scientific reports)
[2019, 9(1):11211]

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Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria.

Sara Aljarad, Ahmad Alhamid, Ahmad Rami Rahmeh, Abdelaziz Alibraheem, Abdulsamad Wafa, Walid Alachkar, Ziad Aljarad, Ghasan Aziz,

Bloom syndrome is a rare autosomal recessive disease, in which BLM gene is mutated, leading to genome instability and proneness to malignancy. It is characterized by short stature, sun-sensitive rash and immunodeficiency. We present a case of bloom syndrome with myelodysplasia complicated by acute myeloid leukaemia. This case has new ... Read more >>

Oxf Med Case Reports (Oxford Medical Case Reports)
[2018, 2018(12):omy096]

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Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience.

Nader Al-Dewik, Howaida Mohd, Mariam Al-Mureikhi, Rehab Ali, Fatma Al-Mesaifri, Laila Mahmoud, Noora Shahbeck, Karen El-Akouri, Mariam Almulla, Reem Al Sulaiman, Sara Musa, Ajayeb Al-Nabet Al-Marri, Gabriele Richard, Jane Juusola, Benjamin D Solomon, Fowzan S Alkuraya, Tawfeg Ben-Omran,

BACKGROUND:Clinical exome sequencing (CES) is rapidly becoming the diagnostic test of choice in patients with suspected Mendelian diseases especially those that are heterogeneous in etiology and clinical presentation. Reporting large CES series can inform guidelines on best practices for test utilization, and improves accuracy of variant interpretation through clinically-oriented data ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2019, 179(6):927-935]

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Hereditary Syndromes with Signs of Premature Aging.

Davor Lessel, Christian Kubisch,

BACKGROUND:Segmental progeroid syndromes (SPS) are rare hereditary diseases in which the affected individuals show signs of premature aging in more than one organ or type of tissue. We review the clinical and genetic features of some of these syndromes and discuss the extent to which their study affords a complementary ... Read more >>

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2019, 116(29-30):489-496]

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Eponymous women in ophthalmology: syndromes with prominent eye manifestations named after female physicians.

Sarah H Van Tassel, Kira L Segal, Jessica B Ciralsky, Grace Sun,

Eye (Lond) (Eye (London, England))
[2018, 32(8):1293-1295]

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A simple saccadic reading test to assess ocular motor function in cerebellar ataxia.

Angela Jinsook Oh, Tiffany Chen, Mohammad Ali Shariati, Naz Jehangir, Thomas N Hwang, Yaping Joyce Liao,

Cerebellar ataxia is a neurological disorder due to dysfunction of the cerebellum that affects coordination of fine movement, gait, and balance. Although ataxic patients commonly exhibit abnormal eye movement and have difficulties with saccadic reading, quantification of ocular motor abilities during reading in the clinical setting is rarely done. In ... Read more >>

PLoS ONE (PloS one)
[2018, 13(11):e0203924]

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The silencing of long non-coding RNA ANRIL suppresses invasion, and promotes apoptosis of retinoblastoma cells through the ATM-E2F1 signaling pathway.

Yang Yang, Xiao-Wei Peng,

As one of the most common primary intraocular carcinomas, retinoblastoma generally stems from the inactivation of the retinoblastoma RB1 gene in retinal cells. Antisense non-coding RNA in the INK4 locus (ANRIL), a long non-coding RNA (lncRNA), has been reported to affect tumorigenesis and progression of various cancers, including gastric cancer ... Read more >>

Biosci. Rep. (Bioscience reports)
[2018, 38(6):]

Cited: 3 times

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Toward automation of germline variant curation in clinical cancer genetics.

Vignesh Ravichandran, Zarina Shameer, Yelena Kemel, Michael Walsh, Karen Cadoo, Steven Lipkin, Diana Mandelker, Liying Zhang, Zsofia Stadler, Mark Robson, Kenneth Offit, Joseph Vijai,

PURPOSE:Cancer care professionals are confronted with interpreting results from multiplexed gene sequencing of patients at hereditary risk for cancer. Assessments for variant classification now require orthogonal data searches and aggregation of multiple lines of evidence from diverse resources. The clinical genetics community needs a fast algorithm that automates American College ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2019, 21(9):2116-2125]

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Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munhoz,

Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene ... Read more >>

Cerebellum (Cerebellum (London, England))
[2018, 17(3):380-385]

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Exploring the druggable space around the Fanconi anemia pathway using machine learning and mechanistic models.

Marina Esteban-Medina, María Peña-Chilet, Carlos Loucera, Joaquín Dopazo,

BACKGROUND:In spite of the abundance of genomic data, predictive models that describe phenotypes as a function of gene expression or mutations are difficult to obtain because they are affected by the curse of dimensionality, given the disbalance between samples and candidate genes. And this is especially dramatic in scenarios in ... Read more >>

BMC Bioinformatics (BMC bioinformatics)
[2019, 20(1):370]

Cited: 1 time

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Next generation sequencing for clinical diagnostics: Five year experience of an academic laboratory.

Paige Hartman, Kenneth Beckman, Kevin Silverstein, Sophia Yohe, Matthew Schomaker, Christine Henzler, Getiria Onsongo, Ham Ching Lam, Sarah Munro, Jerry Daniel, Bradley Billstein, Archana Deshpande, Adam Hauge, Pawel Mroz, Whiwon Lee, Jennifer Holle, Katie Wiens, Kylene Karnuth, Teresa Kemmer, Michaela Leary, Stephen Michel, Laurie Pohlman, Venugopal Thayanithy, Andrew Nelson, Matthew Bower, Bharat Thyagarajan,

Clinical laboratories have adopted next generation sequencing (NGS) as a gold standard for the diagnosis of hereditary disorders because of its analytic accuracy, high throughput, and potential for cost-effectiveness. We describe the implementation of a single broad-based NGS sequencing assay to meet the genetic testing needs at the University of ... Read more >>

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 19:100464]

Cited: 2 times

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Osthole enhances antitumor activity and irradiation sensitivity of cervical cancer cells by suppressing ATM/NF‑κB signaling.

Yilin Che, Juan Li, Zongjuan Li, Jing Li, Shuai Wang, Ying Yan, Kun Zou, Lijuan Zou,

Osthole (7‑methoxy‑8‑isopentenoxycoumarin) is an O‑methylated coumarin, originally extracted from Chinese herbal medicine. It has been demonstrated that osthole has antitumor effects in various cancer cells in vitro. The present study assessed the effects of osthole on the regulation of cervical cancer cell viability, apoptosis, and radiation sensitization. HeLa, SiHa, C‑33A and ... Read more >>

Oncol. Rep. (Oncology Reports)
[2018, 40(2):737-747]

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Aging, Metabolic, and Degenerative Disorders: Biomedical Value of Antioxidants.

Mohamed M Abdel-Daim, Nadia I Zakhary, Lotfi Aleya, Simona G Bungǎu, Raghvendra A Bohara, Nikhat J Siddiqi,

Oxid Med Cell Longev (Oxidative Medicine and Cellular Longevity)
[2018, 2018:2098123]

Cited: 4 times

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Autoimmune retinopathy and optic neuropathy associated with enolase-positive renal oncocytoma.

Justine L Cheng, Johanna D Beebe, Kenneth G Nepple, Yousef Zakharia, Robert F Mullins, Miles J Flamme-Wiese, Matthew J Thurtell, Ian C Han,

Purpose:To report a case of autoimmune retinopathy and optic neuropathy associated with an enolase-positive renal oncocytoma. Observations:A 41-year-old man presented with subacute, painless, bilateral vision loss. On initial examination, visual acuity measured 20/125 OD and 20/1250 OS, and telangiectatic vessels were noted on the optic nerves and in the maculae. ... Read more >>

Am J Ophthalmol Case Rep (American journal of ophthalmology case reports)
[2018, 12:55-60]

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