Results 121 to 130 of about 90,161 (348)

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

Genetics in Medicine, 2020
Lamins are the major component of nuclear lamina, maintaining structural integrity of the nucleus. Lamin A/C variants are well established to cause a spectrum of disorders ranging from myopathies to progeria, termed laminopathies.
D. Parry, Carol-Anne Martin, P. Greene, J. Marsh, J. C. P. E. L. M. F. J. M. C. R. H. M. J. G. C. C. E. Ambrose Arumugam Baple Bleda Boardman-Pretty Boiss, J. Ambrose, P. Arumugam, E. Baple, M. Bleda, F. Boardman-Pretty, J. Boissiere, C. Boustred, H. Brittain, M. Caulfield, G. Chan, C. Craig, L. Daugherty, A. de Burca, A. Devereau, G. Elgar, R. E. Foulger, T. Fowler, P. Furió-Tarí, A. Giess, J. Hackett, D. Halai, A. Hamblin, S. Henderson, J. Holman, T. Hubbard, K. Ibáñez, R. Jackson, L. J. Jones, D. Kasperaviciute, M. Kayikci, A. Kousathanas, L. Lahnstein, K. Lawson, S. Leigh, I. Leong, F. J. Lopez, F. Maleady-Crowe, J. Mason, E. McDonagh, L. Moutsianas, M. Mueller, N. Murugaesu, A. Need, C. Odhams, A. Orioli, C. Patch, D. Perez-Gil, M. Pereira, D. Polychronopoulos, J. Pullinger, T. Rahim, A. Rendon, P. Riesgo-Ferreiro, T. Rogers, M. Ryten, K. Savage, K. Sawant, R. Scott, A. Siddiq, A. Sieghart, D. Smedley, K. Smith, S. Smith, A. Sosinsky, W. Spooner, H. E. Stevens, A. Stuckey, R. Sultana, M. Tanguy, E. Thomas, S. Thompson, C. Tregidgo, A. Tucci, E. Walsh, S. Watters, M. Welland, E. Williams, K. Witkowska, S. Wood, M. Zarowiecki, Moira Blyth, H. Cox, D. Donnelly, L. Greenhalgh, S. Greville-Heygate, V. Harrison, K. Lachlan, C. McKenna, A. Quigley, Gillian Rea, L. Robertson, M. Suri, A. Jackson   +97 more
semanticscholar   +1 more source

LZTS2 Negatively Regulates Centrosomal CEP135 Levels and Microtubule Nucleation

Cytoskeleton, EarlyView.
ABSTRACT The microtubule cytoskeleton is a fundamental functional component of the cell. In vertebrate proliferating cells, centrosomes are the primary microtubule organizing center (MTOC), and their dysregulation has been linked to genomic instability and cancer.
Catarina Peneda, Joana N. Bugalhao, Marco Antonio Dias Louro, Andreia Henriques‐Soares, Monica Bettencourt‐Dias   +4 more
wiley   +1 more source

The human Cranio Facial Development Protein 1 (Cfdp1) gene encodes a protein required for the maintenance of higher-order chromatin organization [PDF]

, 2017
The human Cranio Facial Development Protein 1 (Cfdp1) gene maps to chromosome 16q22.2-q22.3 and encodes the CFDP1 protein, which belongs to the evolutionarily conserved Bucentaur (BCNT) family.
Atterrato, Maria Teresa, Dimitri, Patrizio, Losada, Ana, Messina, Giovanni, Piacentini, Lucia, Prozzillo, Yuri   +5 more
core   +3 more sources

Monodentate Phosphine Modulation in Cyclometallated Platinum(II) Complexes for Antileishmanial, Antiviral, and Antitumor Applications

ChemMedChem, EarlyView.
Schematic representation depicting the influence of phosphine ligand identity on the biological and physicochemical characteristics of Pt(II) complexes: PTA promotes antileishmanial activity, PPh2(Php–COOH) strengthens antiviral activity, and TCEP enhances fluorescence.
Antonio A. de Oliveira‐Neto, Gustavo Clauss, Jennyfer Castro, Marcus S. A. Garcia, Natasha M. Cassani, Bruna C. Sandim, Ana Laura C. Oliveira, Stephanie P. B. Reyes, Nádija N. P. da Silva, Fillipe V. Rocha, Ana C. G. Jardim, Danilo C. Miguel, Camilla Abbehausen   +12 more
wiley   +1 more source

Available Evidence of Association between Zika Virus and Microcephaly

Chinese Medical Journal, 2016
Objective: To clarify the possible association between the Zika virus (ZIKV) and microcephaly and understand where we are in terms of research and the debate on the causation between mild maternal clinical features and severe fetal microcephaly.
Jing Wu, Da-Yong Huang, Jun-Tao Ma, Ying-Hua Ma, Yi-Fei Hu   +4 more
doaj   +1 more source

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda, Bernardo, Silvia, Catalano, Carlo, DE VITO, Corrado, Di Meglio, L, Giancotti, Antonella, Manganaro, Lucia, Marchionni, Enrica, Pizzuti, Antonio, Saldari, Matteo, Silvestri, E, Vinci, Valeria   +11 more
core   +1 more source

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2 [PDF]

, 2003
Key points: • Autosomal recessive primary microcephaly (MCPH) is a genetic disorder in which an affected subject is born with a head circumference >3 SD below the expected mean and is mentally retarded.
Costa, S.M.R., Hampshire, D.J., Leal, G.F., Roberts, E., Silva, E.O., Woods, C.G.   +5 more
core   +2 more sources

Zika epidemic and microcephaly in Brazil: Challenges for access to health care and promotion in three epidemic areas

PLoS ONE, 2020
Since 2015 Brazil has experienced the social repercussions of the Zika virus epidemic, thus raising a debate about: difficulties of diagnosis; healthcare access for children with Zika Congenital Syndrome (ZCS); the search for benefits by affected ...
P. Peiter, R. S. Pereira, Martha Cristina Nunes Moreira, M. Nascimento, María Tavares, V. Franco, José Joaquin Carvajal Cortês, Daniel de Souza Campos, C. Barcellos   +8 more
semanticscholar   +1 more source

Gene‐Specific Growth Charts for ASXL3‐Related Disorder

American Journal of Medical Genetics Part A, EarlyView.
E. Woods, K. J. Low, T. J. Cole, M. Balasubramanian   +3 more
wiley   +1 more source