Results 111 to 120 of about 305,611 (291)

Detection of regulator genes and eQTLs in gene networks

, 2016
Genetic differences between individuals associated to quantitative phenotypic traits, including disease states, are usually found in non-coding genomic regions.
A Butte, A Chatr-Aryamontri, A Clauset, A Joshi, A Joshi, A Kundaje, AA Shabalin, AJ Enright, AJ Walhout, AS Dimas, B Schwanhausser, B Zhang, B Zhang, C Cenik, CO Daub, D Koller, DA Cusanovich, DM Greenawalt, E Bonnet, E Ravasz, E Segal, EC Neto, EC Neto, EC Neto, EE Schadt, EE Schadt, EE Schadt, EE Schadt, EE Schadt, EJ Foss, F Grubert, F Yue, FA Cubillos, FW Albert, G Hemani, G Nicholson, GD Smith, GH Golub, H Foroughi Asl, H Talukdar, HN Kadarmideen, J Millstein, J Qi, J Zhu, J Zhu, J Zhu, JE Aten, JF Ayroles, JJ Faith, JL Björkegren, JS Liu, K Basso, K Qu, KG Ardlie, L Wu, LA Hindorff, LH Hartwell, LS Chen, M Ashburner, M Civelek, M Georges, M Gerstein, M Medvedovic, M Schmidt, M Scutari, MA Schaub, MB Eisen, MD Ritchie, ME Goddard, MEJ Newman, MEJ Newman, MV Rockman, MV Rockman, N Friedman, N Friedman, N Friedman, N Laird, O Stegle, P Langfelder, P Langfelder, P Langfelder, P Lu, R Sharan, R Sharan, RB Brem, RW Williams, S Lee, S Roy, S Tavazoie, SI Lee, SM Waszak, SS Rao, T Lappalainen, T Michoel, TA Manolio, TF Mackay, The ENCODE, TS Furey, VG Cheung, W Cookson, W Zhang, Y Chen, Y Li   +102 more
core   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Impact of Plasma p‐tau181 on Cognition, Motor Phenotypes, and Disease Course in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Phosphorylated tau181 (p‐tau181), an Alzheimer's disease biomarker, was recently evaluated in amyotrophic lateral sclerosis (ALS). We investigated plasma p‐tau181 in 202 ALS/ALS‐FTD patients and 94 healthy controls, assessing cognitive performance, motor function, and longitudinal dynamics.
Elisabeth Kasper, Annaliis Lehto, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Vogt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Anja Schneider, Stefan Teipel, Johannes Prudlo, Andreas Hermann   +25 more
wiley   +1 more source

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt

Molecular and Cellular Pediatrics
Background This study aimed to identify GBA1 variants in Egyptian Gaucher disease (GD) patients residing in a region with high consanguinity and to correlate these genotypes with their clinical phenotypes.
Mervat A. M. Youssef, Solaf M. Elsayed, Khalid I. Elsayh, Sherin A. Taha, Hala S.M. Abdelmotogaly, Mostafa M. Embaby   +5 more
doaj   +1 more source

Response to Allopurinol and Febuxostat According to the Fractional Excretion of Urate in Men With Gout

Arthritis Care &Research, EarlyView.
Objective Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of uric acid (FEUA) also modulates this response and relates to oxypurinol concentrations.
Pascal Richette, Anouk Walter‐Petrich, Quang Dinh Nguyen, Matthieu Resche‐Rigon, Quang Huy Dinh Nguyen, Minh Duc Do, Thao Phuong Mai, Tuan Duc Nguyen, Fernando Perez‐Ruiz, Emmanuel Letavernier, Tristan Pascart, Augustin Latourte, Hang Korng Ea, Thomas Bardin   +13 more
wiley   +1 more source

The Phenotype/Genotype Correlation of Lactase Persistence among Omani Adults

Oman Medical Journal, 2013
Objective: To examine the correlation of lactase persistence phenotype with genotype in Omani adults.Methods: Lactase persistence phenotype was tested by hydrogen breath test in 52 Omani Adults using the Micro H2 analyzer.
Abdulrahim Al-Abri, Riad Bayoumi
doaj   +1 more source

GATA2 at 14: genotype-phenotype correlations

Haematologica
GATA2 mutations cause adult-onset bone-marrow failure characterized by cytopenias, infections and increased risk of myeloid malignancy. We reviewed hospital records and referrals of 232 GATA2 mutated individuals from 122 families to gather hematopoietic and syndromic features.
Amy P, Hsu, Subrata, Paul, Jennifer L, Kwan, Philip L F, Johnson, Justin, Lack, Eva P, Szymanski, Jana, Lovell, Ladan, Foruraghi, Cindy, Palmer, Christa S, Zerbe, Janine R, Daub, Joie, Davis, Dennis D, Hickstein, Katherine R, Calvo, Steven M, Holland   +14 more
openaire   +2 more sources