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Results: 32
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.
Ahmet Yaramis, Hanns Lochmüller, Ana Töpf, Ece Sonmezler, Elmasnur Yilmaz, Semra Hiz, Uluc Yis, Serdal Gungor, Ayse Ipek Polat, Pinar Edem, Sergi Beltran, Steven Laurie, Aysenur Yaramis, Rita Horvath, Yavuz Oktay
Mar 13, 2020
Objective:This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. Methods:Whole-exome sequencing...
Published by: Neurology. Genetics
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children.
Ahmet Yaramis, Hanns Lochmüller, Ana Töpf, Ece Sonmezler, Elmasnur Yilmaz, Semra Hiz, Uluc Yis, Serdal Gungor, Ayse Ipek Polat, Pinar Edem, Sergi Beltran, Steven Laurie, Aysenur Yaramis, Rita Horvath, Yavuz Oktay
Apr 21, 2020
OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome...
Decoding 5HMC as an Active Chromatin Mark in the Brain and its Link to Rett Syndrome
Pinar Ayata
Jan 01, 0001
Functions of the nervous system are accompanied at the cellular level by changes in gene expression, regulated by transcription factors and epigenetic mechanisms, such as histone modifications and DNA methylation, that are...
Published by: Rockefeller University
A Brief Survey on Big Data in Healthcare
This article presents a brief introduction to big data and big data analytics and also their roles in the healthcare system. A definite range of scientific researches about big data analytics in the healthcare system have been...
Published by: IGI Global Scientific Publishing
TMEM27: A Cleaved and Shed Plasma Membrane Protein That Stimulates Pancreatic Beta Cell Proliferation
Pinar Akpinar
Jan 01, 0001
The signals and the molecular mechanisms that regulate the replication of terminally differentiated β cells are unclear. In this thesis I report the identification of a gene encoding transmembrane protein 27 (TMEM27) in...
Published by: Rockefeller University
An optimization‐based decision‐support tool for post‐disaster debris operations
Debris generated by disasters can hinder relief efforts and result in devastating economic, environmental, and health problems. In this study, we present a decision‐support tool employing analytical models to assist disaster and...
An optimization‐based decision‐support tool for post‐disaster debris operations
Debris generated by disasters can hinder relief efforts and result in devastating economic, environmental, and health problems. In this study, we present a decision‐support tool employing analytical models to assist disaster and...
IronyTR
Irony, which is a way of expression through the use of the opposite, commonly occurs in daily social media posts. Hence, automatic detection of irony is essential to understand the semantics of informal texts more accurately....
Published by: IGI Global Scientific Publishing
How yeast re-programmes its transcriptional profile in response to different nutrient impulses.
Duygu Dikicioglu, Erkan Karabekmez, Bharat Rash, Pinar Pir, Betul Kirdar, Stephen Oliver
Feb 23, 2012
Associations between sexual activity and weight status
Lee Smith, Lin Yang, Suzanna Forwood, Guillermo Lopez-Sanchez, Ai Koyanagi, Nicola Veronese, Pinar Soysal, Igor Grabovac, Sarah Jackson
Feb 24, 2020
OBJECTIVE: To investigate the association between weight status and sexual activity in middle-aged and older adults. METHODS: Cross-sectional analysis on Wave 6 (2012/13) of the English Longitudinal Study of Ageing. Data were...
Abdominal aortic aneurysms in women - Authors' reply.
We thank Kosmas Paraskevas for his interest in our study.The practice of medicine should be based on the best available evidence. The best evidence for when women lose their morphological suitability for endovascular aneurysm...
Personality Analysis Using Classification on Turkish Tweets
According to the psychology literature, there is a strong correlation between the personality traits and the linguistic behavior of people. Due to increase in computer based communication, individuals express their personalities...
Published by: IGI Global Scientific Publishing
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Joshua Hodgson, Lidia Ruiz-Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak-Toydemir, Whitney Wooderchak-Donahue, Nicholas Morrell, Robin Condliffe, Carmelo Bernabeu, Paul Upton
Mar 23, 2021
BACKGROUND: Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH), yet loss of circulating BMP9 has not been...
Editor's Choice - Re-interventions After Repair of Ruptured Abdominal Aortic Aneurysm
Janet T Powell, Michael J Sweeting, Pinar Ulug, Matthew M Thompson, Robert J Hinchliffe, IMPROVE Trial Investigators
May 25, 2018
OBJECTIVE/BACKGROUND: The aim was to describe the re-interventions after endovascular and open repair of rupture, and investigate whether these were associated with aortic morphology. METHODS: In total, 502 patients from the...
Analysis of clinical benefit, harms, and cost-effectiveness of screening women for abdominal aortic aneurysm.
Michael J Sweeting, Katya L Masconi, Edmund Jones, Pinar Ulug, Matthew J Glover, Jonathan A Michaels, Matthew J Bown, Janet T Powell, Simon G Thompson
Sep 10, 2018
BACKGROUND: A third of deaths in the UK from ruptured abdominal aortic aneurysm (AAA) are in women. In men, national screening programmes reduce deaths from AAA and are cost-effective. The benefits, harms, and cost-effectiveness...
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG.
C Paketci, P Edem, S Hiz, E Sonmezler, D Soydemir, G Sarikaya Uzan, Y Oktay, E O'Heir, S Beltran, S Laurie, A Töpf, H Lochmuller, R Horvath, U Yis
Jul 03, 2020
BACKGROUND: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far. CASE...
ALG3 Congenital Disorders of Glycosylation developmental delay Hemangioma Intractable epilepsy ketogenic diet Central Nervous System Neoplasms Congenital Disorders of Glycosylation Craniofacial Abnormalities Developmental Disabilities Diet Ketogenic Drug Resistant Epilepsy Female Hemangioma Humans Infant Male Mannosyltransferases Twins Exome Sequencing
Review of William Pinar, Moving Images of Eternity
Bryan Heystee
Apr 22, 2021
William Pinar’s 2019 book Moving Images of Eternity: George Grant’s Critiqueof Time, Teaching, and Technology presents a much-needed and welcomeaddition to scholarship on one of Canada’s most significant philosophers....
Published by: Memorial University of Newfoundland
Screening women aged 65 years or over for abdominal aortic aneurysm
Simon G Thompson, Matthew J Bown, Matthew J Glover, Edmund Jones, Katya L Masconi, Jonathan A Michaels, Janet T Powell, Pinar Ulug, Michael J Sweeting
May 24, 2018
BACKGROUND: Abdominal aortic aneurysm (AAA) screening programmes have been established for men in the UK to reduce deaths from AAA rupture. Whether or not screening should be extended to women is uncertain. OBJECTIVE: To...
Review of William Pinar, Moving Images of Eternity
Bryan Heystee
Apr 22, 2021
William Pinar’s 2019 book Moving Images of Eternity: George Grant’s Critiqueof Time, Teaching, and Technology presents a much-needed and welcomeaddition to scholarship on one of Canada’s most significant philosophers....
Published by: Memorial University of Newfoundland
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Gross, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
Jan 31, 2022
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Semra Hiz Kurul, Yavuz Oktay, Ana Töpf, Nóra Zs Szabó, Serdal Güngör, Ahmet Yaramis, Ece Sonmezler, Leslie Matalonga, Uluc Yis, Katherine Schon, Ida Paramonov, İpek Polat Kalafatcilar, Fei Gao, Aliz Rieger, Nur Arslan, Elmasnur Yilmaz, Burcu Ekinci, Pinar Pulat Edem, Mahmut Aslan, Bilge Özgör, Angela Lochmüller, Ashwati Nair, Emily O'Heir, Alysia K Lovgren, Broad Center for Mendelian Genomics, Reza Maroofian, Henry Houlden, Kiran Polavarapu, Andreas Roos, Juliane S Müller, Denisa Hathazi, Patrick F Chinnery, Steven Laurie, Sergi Beltran, Hanns Lochmüller, Rita Horvath
Oct 13, 2021
Survival time and differences between dementia with Lewy bodies and Alzheimer's disease following diagnosis
Christoph Mueller, Pinar Soysal, Arvid Rongve, Ahmet Turan Isik, Trevor Thompson, Stefania Maggi, Lee Smith, Cristina Basso, Robert Stewart, Clive Ballard, John T O'Brien, Dag Aarsland, Brendon Stubbs, Nicola Veronese
Feb 07, 2019
Homozygous GDF2 nonsense mutations result in a loss of circulating BMP9 and BMP10 and are associated with either PAH or an "HHT-like" syndrome in children.
Joshua Hodgson, Lidia Ruiz-Llorente, Jamie McDonald, Oliver Quarrell, Kelechi Ugonna, James Bentham, Rebecca Mason, Jennifer Martin, David Moore, Katie Bergstrom, Pinar Bayrak-Toydemir, Whitney Wooderchak-Donahue, Nicholas W Morrell, Robin Condliffe, Carmelo Bernabeu, Paul D Upton
Jan 05, 2022
BACKGROUND: Disrupted endothelial BMP9/10 signaling may contribute to the pathophysiology of both hereditary hemorrhagic telangiectasia (HHT) and pulmonary arterial hypertension (PAH), yet loss of circulating BMP9 has not been...
bone morphogenetic protein hereditary hemorrhagic telangiectasia pulmonary arterial hypertension pulmonary arteriovenous malformations Alleles Angiography Bone Morphogenetic Proteins Cell Line Child Codon Nonsense Enzyme-Linked Immunosorbent Assay Genetic Association Studies Genetic Predisposition to Disease Growth Differentiation Factor 2 Homozygote Humans Phenotype pulmonary arterial hypertension Syndrome Telangiectasia Hereditary Hemorrhagic
Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Annabelle Arlt, Nicolai Kohlschmidt, Andreas Hentschel, Enrika Bartels, Claudia Gross, Ana Töpf, Pınar Edem, Nora Szabo, Albert Sickmann, Nancy Meyer, Ulrike Schara-Schmidt, Jarred Lau, Hanns Lochmüller, Rita Horvath, Yavuz Oktay, Andreas Roos, Semra Hiz
Mar 05, 2022
BACKGROUND: Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal- and ectodermal-derived structures and caused by PORCN mutations. Features include striated skin-pigmentation, ocular and skeletal...
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