Results 121 to 130 of about 1,727,162 (300)

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

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]

, 2014
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun, Das, Soma, Dempsey, Melissa, Dietz, Harry C, Jones, Marilyn C, Lozada, Anthony   +5 more
core   +3 more sources

BGN/MDK Axis in the Melanoma Tumor Microenvironment Strengthens Tumor Malignancy by Modulating Cancer Cells and Cancer‐Associated Fibroblasts Crosstalk

Advanced Science, EarlyView.
This study reveals that m6A regulators cooperatively upregulate BGN in melanoma, promoting malignancy. Within the tumor microenvironment, CAFs show highest BGN expression. The BGN/MDK axis mediates cancer‐stroma crosstalk, driving normal fibroblast (NF) activation and enhancing the pro‐tumor effect of CAFs, highlighting a promising therapeutic target ...
Hao‐ze Shi, Ming‐yang Wu, Jin‐quan Liu, Cuicui Tian, Li Ma, Xue‐mei Zhou, Ze‐Hao Sun, Zhi‐yong Xu, Run‐dong Zhang, Shan‐yuan Ye, Li‐ming Huang, Yan Wang, Jing‐shu Xiong, Wen‐bo Bu, Xian‐feng Cheng, Jian‐fang Sun, Hao Chen   +16 more
wiley   +1 more source

A progeroid syndrome in mice is caused by defects in A-type lamins [PDF]

Nature, 2003
Numerous studies of the underlying causes of ageing have been attempted by examining diseases associated with premature ageing, such as Werner's syndrome and Hutchinson-Gilford progeria syndrome (HGPS). HGPS is a rare genetic disorder resulting in phenotypes suggestive of accelerated ageing, including shortened stature, craniofacial disproportion, very
Leslie C, Mounkes, Serguei, Kozlov, Lidia, Hernandez, Teresa, Sullivan, Colin L, Stewart   +4 more
openaire   +2 more sources

Depletion of lamins B1 and B2 promotes chromatin mobility and induces differential gene expression by a mesoscale-motion-dependent mechanism

Genome Biology
Background B-type lamins are critical nuclear envelope proteins that interact with the three-dimensional genomic architecture. However, identifying the direct roles of B-lamins on dynamic genome organization has been challenging as their joint depletion ...
Emily M. Pujadas Liwag, Xiaolong Wei, Nicolas Acosta, Lucas M. Carter, Jiekun Yang, Luay M. Almassalha, Surbhi Jain, Ali Daneshkhah, Suhas S. P. Rao, Fidan Seker-Polat, Kyle L. MacQuarrie, Joe Ibarra, Vasundhara Agrawal, Erez Lieberman Aiden, Masato T. Kanemaki, Vadim Backman, Mazhar Adli   +16 more
doaj   +1 more source

Lamin A rod domain mutants target heterochromatin protein 1alpha and beta for proteasomal degradation by activation of F-box protein, FBXW10. [PDF]

PLoS ONE, 2010
Lamins are major structural proteins of the nucleus and contribute to the organization of various nuclear functions. Mutations in the human lamin A gene cause a number of highly degenerative diseases, collectively termed as laminopathies.
Pankaj Chaturvedi, Veena K Parnaik
doaj   +1 more source

Mechanical and Systems Biology of Cancer [PDF]

, 2018
Mechanics and biochemical signaling are both often deregulated in cancer, leading to cancer cell phenotypes that exhibit increased invasiveness, proliferation, and survival.
Bakal, Chris, Mak, Michael, Spill, Fabian   +2 more
core   +3 more sources

Timing Mechanotransduction: Mechanically Dynamic Biomaterials Reveal the Temporal Hierarchy of YAP/TAZ Control Nodes

Advanced Science, EarlyView.
This work develops dynamically softening polyacrylamide hydrogels for time‐resolved imaging during continuous mechanical transitions. The study revealed that mechanotransduction is biphasic; YAP/TAZ inactivation is driven by early loss of the nucleocytoskeletal continuum connecting subnuclear adhesions, F‐actin, and the nuclear envelope, coupled with ...
Alessandro Gandin, Giada Vanni, Veronica Torresan, Margherita Pelosin, Rebecca Busetto, Anna Citron, Ambela Suli, Paolo Contessotto, Carlo Albanese, Francesca Zanconato, Tito Panciera, Stefano Piccolo, Giovanna Brusatin   +12 more
wiley   +1 more source

A dual role for A-type lamins in DNA double-strand break repair [PDF]

Cell Cycle, 2011
A-type lamins are emerging as regulators of nuclear organization and function. Changes in their expression are associated with cancer and mutations are linked to degenerative diseases -laminopathies-. Although a correlation exists between alterations in lamins and genomic instability, the molecular mechanisms remain largely unknown. We previously found
Redwood, Abena B, Perkins, Stephanie M, Vanderwaal, Robert P, Feng, Zhihui, Biehl, Kenneth J, Gonzalez-Suarez, Ignacio, Morgado-Palacin, Lucia, Shi, Wei, Sage, Julien, Roti-Roti, Joseph L, Stewart, Colin L, Zhang, Junran, Gonzalo, Susana   +12 more
openaire   +3 more sources

Roles of the lamin A-specific tail region in the localization to sites of nuclear envelope rupture

PNAS Nexus
The nuclear lamina (NL) lines the nuclear envelope (NE) to maintain nuclear structure in metazoan cells. The major NL components, the nuclear lamins contribute to the protection against NE rupture induced by mechanical stress.
Yohei Kono, Chan-Gi Pack, Takehiko Ichikawa, Arata Komatsubara, Stephen A. Adam, Keisuke Miyazawa, Loïc Rolas, S. Nourshargh, O. Medalia, Robert D. Goldman, Takeshi Fukuma, Hiroshi Kimura, T. Shimi   +12 more
semanticscholar   +1 more source