Results 131 to 140 of about 91,169 (280)

Decision letter: Kinetochore inactivation by expression of a repressive mRNA

, 2017

openalex   +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

Trypanosome outer kinetochore proteins suggest conservation of chromosome segregation machinery across eukaryotes [PDF]

, 2016
Simon D’Archivio, Bill Wickstead
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

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

Erratum for Huber et al., “The Microtubule-Stabilizing Protein CLASP1 Associates with the Theileria annulata Schizont Surface via Its Kinetochore-Binding Domain” [PDF]

, 2017
Sandra Huber, Romina Theiler, Daniel de Quervain, Olga Wiens, Tülin Karagenç, Volker T. Heussler, D. Dobbelaere, Kerry Woods   +7 more
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

Kinetochore reproduction theory may explain rapid chromosome evolution

, 2000
Laurie R. Godfrey, Judith C. Masters
openalex   +1 more source

Kinetochore Dynein Is Required for Chromosome Motion and Congression Independent of the Spindle Checkpoint [PDF]

, 2007
Zhenye Yang, U. Serdar Tulu, Patricia Wadsworth, Conly L. Rieder   +3 more
openalex   +1 more source

Hematopathology Practice in the Digital Era: What has Changed?

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematopathology workflows are complex, since they include numerous data points necessary for guiding further testing, diagnosis, and patient management. The workflows start with complete blood cell counts, with subsequent morphologic evaluation of peripheral blood (PB) and bone marrow (BM).
Olga Pozdnyakova
wiley   +1 more source