Results 81 to 90 of about 3,786,126 (364)

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome [PDF]

, 2010
Background The introduction of molecular karyotyping technologies facilitated the identification of specific genetic disorders associated with imbalances of certain genomic regions.
Bena, F, Bottani, A, Breckpot, J, Cheung, SW, Devriendt, K, Fong, CT, Friedman, JM, Fryns, JP, Gimelli, S, Gorski, JL, Grange, DK, Kussmann, JL, Menten, Björn, Morris, MM, Mortier, Geert, Philip, N, Salamone, JM, Scalais, E, Thienpont, B, Van Esch, H, Vermeesch, JR, Villard, L, Yong, SL, Zahir, F   +23 more
core   +2 more sources

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

LOXHD1 and RHOB Expression by Monocytes Predicts Progressive Systemic Sclerosis associated Interstitial Lung Disease

Arthritis Care &Research, Accepted Article.
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla, Robert Lafyatis, Kevin F Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J Kass   +13 more
wiley   +1 more source

Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders

Molecular Therapy: Methods & Clinical Development, 2020
Many human genetic diseases are associated with gross mutations such as aneuploidies, deletions, duplications, or inversions. For these “structural” disorders, conventional gene therapy, based on viral vectors and/or on programmable nuclease-mediated ...
Marianna Paulis, Lucia Susani, Alessandra Castelli, Teruhiko Suzuki, Takahiko Hara, Letizia Straniero, Stefano Duga, Dario Strina, Stefano Mantero, Elena Caldana, Lucia Sergi Sergi, Anna Villa, Paolo Vezzoni   +12 more
doaj  

Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Molecular Cytogenetics, 2009
Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15.
Liu Dahai, Dorrani Naghmeh, Driscoll Jennette, Wang Nicholas J, Wu David J, Sigman Marian, Schanen N Carolyn   +6 more
doaj   +1 more source

Genetic issues in the diagnosis of dystonias [PDF]

, 2013
Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
core   +1 more source

Microphysiological Glomerular Filtration Barriers: Current Insights, Innovations, and Future Applications

Advanced Biology, EarlyView.
The glomerular filtration barrier (GFB) is the first step of blood filtration by the kidneys. The concerning increase of kidney diseases makes the development of new models essential. In this context, microphysiological glomerular filtration barriers focus on closely reproducing the physiological architecture of the in vivo GFB: podocytes, glomerular ...
Manon Miran, Kieu Ngo, David Buob, Hanna Debiec, Pierre Ronco, Guillaume Perry   +5 more
wiley   +1 more source

Marcadores ultrasonográficos como signos predictivos de cromosomopatías en el período fetal precoz

Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2016
Fundamento: los estudios ecográficos se utilizan en el diagnóstico fetal precoz. Mediante marcadores ultrasonográficos se puede determinar un número importante de defectos congénitos.Objetivo: describir la utilidad de los marcadores ultrasonográficos en ...
Sandor Varela Iraola, Kenia Pérez de Zayas, Héctor Ignacio Pimentel Benítez, Maby Cruz Morales, Miosotis de Lourdes Fernández Lastre   +4 more
doaj  

DNA breaks and chromosome pulverization from errors in mitosis

Nature, 2012
The involvement of whole-chromosome aneuploidy in tumorigenesis is the subject of debate, in large part because of the lack of insight into underlying mechanisms. Here we identify a mechanism by which errors in mitotic chromosome segregation generate DNA
K. Crasta, Neil J. Ganem, R. Dagher, A. Lantermann, E. Ivanova, Yunfeng Pan, L. Nezi, A. Protopopov, Dipanjan Chowdhury, D. Pellman   +9 more
semanticscholar   +1 more source

Recent Applications of Mesoporous Silica Nanoparticles in Gene Therapy

Advanced Healthcare Materials, EarlyView.
The review summarizes the synthesis of mesoporous silica nanoparticles (MSNs) with modifiable surface properties, functionalization strategies, mechanism of therapeutic payload release, and current applications in gene therapy, focusing on their capabilities in the targeted delivery of therapeutic nucleic acids, CRISPR‐Cas systems, and other genetic ...
Tamanna Binte Huq, Punnya Anil Kumar Jeeja, Sudip Kumar Dam, Sabya Sachi Das, Juan L. Vivero‐Escoto   +4 more
wiley   +1 more source