Results 121 to 130 of about 5,533 (240)

LMNA‐related muscular dystrophy presenting as an inflammatory myopathy

Annals of the Child Neurology Society
Introduction There are overlapping features between inflammatory myopathies and muscular dystrophies, particularly laminopathies. Key features that characterize laminopathies include axial and proximal weakness, contractures, and cardiac abnormalities ...
Alexandra Santana Almansa, Stephen M. Chrzanowski, Farrah Rajabi, Megan Day‐Lewis, Pui Y. Lee, Hart G. W. Lidov, Laura L. Lehman, Leslie H. Hayes   +7 more
doaj   +1 more source

Mapping of cell nuclei based on contour warping [PDF]

, 2010
The dynamics of genome regions are associated to the functional or dysfunctional behaviour of the human cell. In order to study these dynamics it is necessary to remove all perturbations coming from movement and deformation of the nucleus, i.e.
De Vos, Winnok, De Vylder, Jonas, Philips, Wilfried   +2 more
core  

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

, 2020
David Parry, Carol-Anne Martin, Philip Greene, Joseph A. Marsh, John C. Ambrose, Prabhu Arumugam, E. L. Baple, Marta Bleda, F. Boardman-Pretty, J. M. Boissiere, C. R. Boustred, Helen Brittain, Mark J. Caulfield, G. C. Chan, Candice Craig, Louise C. Daugherty, Anna de Burca, A. Devereau, Greg Elgar, Rebecca E. Foulger, Tom Fowler, Pedro Furió‐Tarí, Adam Giess, J.M. Hackett, Dina Halai, Angela Hamblin, Shirley Henderson, John E. Holman, Tim Hubbard, Kristina Ibáñez, R. Jackson, J. Louise Jones, Dalia Kasperavičiūtė, Melis Kayikci, Athanasios Kousathanas, L. Lahnstein, Kim Lawson, S. E. A. Leigh, I. U. S. Leong, Fabrice Lopez, F. Maleady-Crowe, Joanne Mason, Ellen M. McDonagh, Loukas Moutsianas, Michael Mueller, Nirupa Murugaesu, Anna C. Need, Christopher A. Odhams, Andrea Orioli, Christine Patch, D. Perez-Gil, Mariana Buongermino Pereira, Dimitris Polychronopoulos, J. Pullinger, T. Rahim, Augusto Rendon, Pablo Riesgo-Ferreiro, T. Rogers, Mina Ryten, K. Savage, K. Sawant, Richard H. Scott, Afshan Siddiq, A. Sieghart, Damian Smedley, Katherine R. Smith, Samuel C. Smith, Alona Sosinsky, W. Spooner, Hallam Stevens, A. Stuckey, Rosy Sultana, M. Tanguy, E.R.A. Thomas, Simon R. Thompson, Carolyn Tregidgo, Arianna Tucci, Elizabeth T. Walsh, Scott Watters, M. J. Welland, Eric O. Williams, Katarzyna Witkowska, S. M. Wood, Magdalena Zarowiecki, Moira Blyth, Helen Cox, Deirdre Donnelly, Lynn Greenhalgh, Stephanie Greville‐Heygate, Victoria Harrison, Katherine Lachlan, Caoimhe McKenna, Alan J. Quigley, Gillian Rea, Lisa Robertson, Mohnish Suri, Andrew P. Jackson   +96 more
openalex   +1 more source

Reciprocal knock-in mice to investigate the functional redundancy of lamin B1 and lamin B2. [PDF]

, 2014
Lamins B1 and B2 (B-type lamins) have very similar sequences and are expressed ubiquitously. In addition, both Lmnb1- and Lmnb2-deficient mice die soon after birth with neuronal layering abnormalities in the cerebral cortex, a consequence of defective ...
Coffinier, Catherine, de Jong, Pieter J, Fong, Loren G, Jung, Hea-Jin, Lee, John M, Nobumori, Chika, Tatar, Angelica, Tu, Yiping, Wu, Daniel, Yoshinaga, Yuko, Young, Stephen G   +10 more
core  

SPANX Regulation of LAMIN A/C Network: Perspectives in Cancer and Laminopathies

, 2020
Ikrame Lazar, Bertrand Fabre
openalex   +1 more source

In Silico and In Vivo Analysis of Amino Acid Substitutions That Cause Laminopathies [PDF]

, 2021
Benjamin E. Hinz, Sydney G. Walker, Austin Xiong, Rose A. Gogal, Michael J. Schnieders, Lori L. Wallrath   +5 more
openalex   +1 more source

Recherche de l'expression de la lamine A et de la progérine chez des patients avec un syndrome myélodysplasique/syndrome myéloprolifératif avec thrombocytose [PDF]

, 2012
Les syndromes myélodysplasiques (SMD) et myéloprolifératifs (SMP) sont des maladies qui touchent les cellules souches de la moelle hématopoïétique.
Wuthrich, H.
core  

Suppression of Activated FOXO Transcription Factors in the Heart Prolongs Survival in a Mouse Model of Laminopathies [PDF]

, 2018
Gaëlle Auguste, Priyatansh Gurha, Raffaella Lombardi, Cristian Coarfa, James T. Willerson, Ali J. Marian   +5 more
openalex   +1 more source

Selection of specific and efficient siRNAs in new cellular model for Hutchinson-Gilford progeria syndrome therapy

Molecular Therapy: Nucleic Acids
Hutchinson-Gilford progeria syndrome is a fatal genetic disorder caused by a point mutation in the gene encoding the nuclear envelope protein lamin A/C.
Volha Dzianisava, Katarzyna Piekarowicz, Magdalena Machowska, Ryszard Rzepecki   +3 more
doaj   +1 more source

Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]

, 2008
Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo, Gerard Vockley, Jacqueline Hoover, Jushua Michel, Laura Ferris, Lisa Kratz, Miao He, Michael Gibson, Richard Kelley   +8 more
core   +1 more source