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Profile of MicroRNAs Differentially Produced in Hearts from Patients with Hypertrophic Cardiomyopathy and Sarcomeric Mutations

CLINICAL CHEMISTRY (2011)

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CLINICAL CHEMISTRY

卷 57, 期 11, 页码 1614-1616

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AMER ASSOC CLINICAL CHEMISTRY

DOI: 10.1373/clinchem.2011.168005

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Article Multidisciplinary Sciences

Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes

Yann Le Guen, Guo Luo, Aditya Ambati, Vincent Damotte, Iris Jansen, Eric Yu, Aude Nicolas, Itziar de Rojasj, Thiago Peixoto Leal, Akinori Miyashita, Celine Bellenguez, Michelle Mulan Lian, Kayenat Parveen, Takashi Morizono, Hyeonseul Park, Benjamin Grenier-Boley, Tatsuhiko Naito, Fahri Kucukali, Seth D. Talyansky, Selina Maria Yogeshwar, Vicente Sempere, Wataru Satake, Victoria Alvarez, Beatrice Arosio, Michael E. Belloy, Luisa Benussi, Anne Boland, Barbara Borroni, Maria J. Bullido, Paolo Caffarra, Jordi Clarimon, Antonio Daniele, Daniel Darling, Stephanie Debette, Jean-Francois Deleuze, Martin Dichgans, Carole Dufouil, Emmanuel During, Emrah Duzel, Daniela Galimberti, Guillermo Garcia-Ribas, Jose Maria Garcia-Alberca, Pablo Garcia-Gonzalez, Vilmantas Giedraitis, Oliver Goldhardt, Caroline Graff, Edna Grunblatt, Olivier Hanon, Lucrezia Hausner, Stefanie Heilmann-Heimbach, Henne Holstege, Jakub Hort, Yoo Jin Jung, Deckert Jurgen, Silke Kern, Teemu Kuulasmaa, Kun Ho Lee, Ling Lin, Carlo Masullo, Patrizia Mecocci, Shima Mehrabian, Alexandre de Mendonca, Merce Boada, Pablo Mir, Susanne Moebus, Fermin Moreno, Benedetta Nacmias, Gael Nicolas, Shumpei Niida, Borge G. Nordestgaard, Goran Papenberg, Janne Papma, Lucilla Parnetti, Florence Pasquier, Pau Pastor, Oliver Peters, Yolande A. L. Pijnenburg, Gerard Pinol-Ripoll, Julius Popp, Laura Molina Porcel, Raquel Puertaj Jordi Perez-Tur, Innocenzo Rainero, Inez Ramakers, Luis M. Real, Steffi Riedel-Heller, Eloy Rodriguez-Rodriguez, Owen A. Ross, Jose Luis Royo, Dan Rujescu, Nikolaos Scarmeas, Philip Scheltens, Norbert Scherbaum, Anja Schneider, Davide Seripa, Ingmar Skoog, Vincenzo Solfrizzi, Gianfranco Spalletta, Alessio Squassina, John van Swieten, Raquel Sanchez-Valle, Eng-King Tan, Thomas Tegos, Charlotte Teunissen, Jesper Qvist Thomassen, Lucio Tremolizzo, Martin Vyhnalek, Frans Verhey, Margda Waern, Jens Wiltfang, Jing Zhangc, Henrik Zetterberg, Kaj Blennow, Zihuai He, Julie Williams, Philippe Amouyel, Frank Jessen, Patrick G. Kehoe, Ole A. Andreassen, Cornelia Van Duin, Magda Tsolaki, Pascual Sanchez-Juan, Ruth Frikke-Schmidt, Kristel Sleegers, Tatsushi Todau, Anna Zettergren, Martin Ingelsson, Yukinori Okada, Giacomina Rossi, Mikko Hiltunen, Jungsoo Gim, Kouichi Ozaki, Rebecca Sims, Jia Nee Foo, Wiesje van der Fliere, Takeshi Ikeuchi, Alfredo Ramirez, Ignacio Mata, Agustin Ruiz, Ziv Gan-Or, Jean-Charles Lambert, Michael D. Greicius, Emmanuel Mignot

Summary: We analyzed the HLA associations in individuals with Parkinson's disease and Alzheimer's disease across different ancestry groups and found that these two diseases share a common protective association at the HLA locus. Fine-mapping showed that specific subtypes of HLA-DRB1*04 were responsible for this association, with HLA-DRB1*04:04 and HLA-DRB1*04:07 showing the strongest association. This protective effect was also associated with decreased neurofibrillary tangles in the brain and reduced levels of tau protein in cerebrospinal fluid.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2023)

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Article Clinical Neurology

Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations

Carmen Garcia-Cabo, Paula Carvajal-Garcia, Ivan Fernandez-Vega, Jorge Pena-Suarez, Valentin Mateos-Marcos, Patricia Suarez-Santos, Victoria Alvarez-Martinez, German Moris-de la Tassa

Summary: Patients with pathogenic variants in the POLG gene present with adult-onset ataxia and sensory neuropathy, characterized by gait disturbance, oculomotor abnormalities, sensory axonal neuropathy, and abnormal brain and muscle magnetic resonance imaging. Molecular analysis of the POLG gene should be considered in cases of adult-onset sensory ataxia.

REVISTA DE NEUROLOGIA (2023)

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Article Genetics & Heredity

IGHG3 hinge length variation was associated with the risk of critical disease and death in a Spanish COVID-19 cohort

Rocio Lopez-Martinez, Guillermo M. Albaiceta, Laura Amado-Rodriguez, Juan Gomez, Elias Cuesta-Llavona, Marta Garcia-Clemente, Tamara Hermida-Valverde, Ana Enriquez-Rodriguez, Cristina Hernandez-Gonzalez, Jesus Martinez-Borra, Carlos Lopez-Larrea, Helena Gil-Pena, Victoria Alvarez, Eliecer Coto

Summary: The IgG3 hinge length polymorphism may be associated with the risk of critical COVID-19 and death, with carriers of the S allele having a higher risk.

GENES AND IMMUNITY (2022)

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