Results 201 to 210 of about 117,673 (373)

TheToxoplasma gondiikinetochore is required for centrosome association with the centrocone (spindle pole) [PDF]

, 2013
Megan Farrell, Marc‐Jan Gubbels
openalex   +1 more source

Prevalence and Spectrum of Congenital Heart Disease in Individuals With Distal Chromosome 22q11.22–23 Deletions

Clinical Genetics, EarlyView.
The frequency and severity of congenital heart disease vary extensively in individuals with 22q11.22–23 distal deletions. Reduced gene dosage particularly within the low copy repeat (LCR22) D–E region including MAPK1 and HIC2 conveys risk for these defects.
Tanner J. Nelson, Daniel E. McGinn, T. Blaine Crowley, Lydia Rockart, Audrey Green, Victoria Giunta, Oanh Tran, Daniella Miller, Jeroen Breckpot, Ann Swillen, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Federica Pulvirenti, Bruno Marino, Beverly S. Emanuel, Elaine H. Zackai, Zhengdong D. Zhang, Elizabeth Goldmuntz, Erik Boot, Anne S. Bassett, Bernice E. Morrow, Donna M. McDonald‐McGinn   +22 more
wiley   +1 more source

Copy Number Variants in the 11p15.5 Associated Imprinting Disorders: An Attempt to Establish a Genotype–Phenotype Correlation

Clinical Genetics, EarlyView.
Copy number variations (CNVs) in 11p15.5 account for more than 2% of the molecular disturbances in the imprinting disorders Beckwith–Wiedemann and Silver–Russell syndrome. Their size and gene content vary, and therefore the impact on the phenotype is variable. Based on published data from > 220 carriers, an overview of the pathogenicity of 11p15.5 CNVs
Anastasia Maria Licata, Elke Botzenhart, Katja Kloth‐Stachnau, Thomas Eggermann   +3 more
wiley   +1 more source

Drosophila Dgt6 Interacts with Ndc80, Msps/XMAP215, and γ-Tubulin to Promote Kinetochore-Driven MT Formation [PDF]

, 2009
Elisabetta Bucciarelli, Claudia Pellacani, Valeria Naim, Antonella Palena, Maurizio Gatti, Maria Patrizia Somma   +5 more
openalex   +1 more source

Analysis of Human Uniparental Embryonic Stem Cells Reveals New Putative Imprinted Loci

Cell Proliferation, EarlyView.
To identify novel imprinted genes, parthenogenetic, androgenetic and biparental human embryonic stem cells and their differentiated neural progenitors were analysed by methylome and transcriptome profiling. This approach uncovered 12 putative novel imprinted genes, including a clustered region on chromosome 19, expanding the current catalogue of ...
Shay Kinreich, Nissim Benvenisty
wiley   +1 more source

The Ndc80-Cdt1-Ska1 complex is a central processive kinetochore–microtubule coupling unit [PDF]

, 2023
Amit Rahi, Manas Chakraborty, Shivangi Agarwal, Kristen M. Vosberg, Shivani Agarwal, Annie Y. Wang, Richard J. McKenney, Dileep Varma   +7 more
openalex   +1 more source

Immune cells composition in the skin and subcutaneous adipose tissue of patients with systemic sclerosis

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives Systemic sclerosis (SSc) is a rare, chronic autoimmune disease characterized by fibrosis of the skin and/or internal organs. Emerging evidence suggests that subcutaneous adipose tissue may contribute to systemic inflammation and fibrosis in SSc.
Marija Geroldinger‐Simić, Ana E. Aguilar González, Gerald Exler, Georg Stary   +3 more
wiley   +1 more source

The Ndc80 kinetochore complex directly modulates microtubule dynamics [PDF]

, 2012
Neil T. Umbreit, Daniel R. Gestaut, Jerry F. Tien, Breanna S. Vollmar, Tamir Gonen, Charles L. Asbury, Trisha N. Davis   +6 more
openalex   +1 more source

Kinetochore Protein NDC80 Homolog [PDF]

, 2020
National Cancer Institute
openalex   +1 more source

Expressive language and social communication abilities in children with spinal muscular atrophy type 1

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To investigate parent‐reported expressive language and social communication abilities in children with spinal muscular atrophy type 1 (SMA1) treated with disease‐modifying therapies. Method This was a cross‐sectional feasibility study performed at the Dubowitz Neuromuscular Centre, London (UK), and the Centro Clinico Nemo Pediatrico, Rome (
Chiara Brusa, Bianca Buchignani, Chiara Cutri, Giorgia Coratti, Elaine Clark, Emily Johnson, Nikki Cornell, Mariacristina Scoto, Marika Pane, Eugenio Maria Mercuri, Francesco Muntoni, Giovanni Baranello, The Language and Social Communication in SMA working group, Harriet Weststrate, Emily Barritt, Laura Antonaci, Daniela Leone, Concetta Palermo, Pinki Munot, Adnan Manzur   +19 more
wiley   +1 more source