Results 141 to 150 of about 191,348 (320)

Finding the middle ground: how kinetochores power chromosome congression [PDF]

, 2018
Genomic stability requires error-free chromosome segregation during mitosis. Chromosome congression to the spindle equator precedes chromosome segregation in anaphase and is a hallmark of metazoan mitosis.
Kops, Geert, Meraldi, Patrick, Saurin, Adrian   +2 more
core  

Arabidopsis Cell Division Cycle 20.1 Is Required for Normal Meiotic Spindle Assembly and Chromosome Segregation [PDF]

, 2015
Baixiao Niu, Liudan Wang, Liangsheng Zhang, Ding Ren, Ren Ren, Gregory P. Copenhaver, Hong Mā, Yingxiang Wang   +7 more
openalex   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

COMMENT ON “A PARTIAL TRISOMY 9 CASE WITH DICENTRIC CHROMOSOME DUE TO THE ADJACENT-2 SEGREGATION OF MATERNAL RECIPROCAL TRANSLOCATION”

İstanbul Tıp Fakültesi Dergisi
Dear Editor, We have read the article entitled “A partial trisomy 9 case with dicentric chromosome due to the adjacent-2 segregation of maternal reciprocal translocation” by Urtekin et al.
Juan Pablo Meza-espınoza, Verónica Judith Pıcos-cárdenas, Evelia Leal-ugarte   +2 more
doaj   +1 more source

Temporally correlated active forces drive segregation and enhanced dynamics in chromosome polymers [PDF]

, 2023
Sumitabha Brahmachari, Tomer Markovich, F. C. MacKintosh, José N. Onuchic   +3 more
openalex   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Structural and functional conservation of the human homolog of the Schizosaccharomyces pombe rad2 gene, which is required for chromosome segregation and recovery from DNA damage [PDF]

, 1994
The rad2 mutant of Schizosaccharomyces pombe is sensitive to UV irradiation and deficient in the repair of UV damage. In addition, it has a very high degree of chromosome loss and/or nondisjunction.
Al-Harithy, R, Carr, A M, Lehmann, A R, Murray, J M, Sheldrick, K S, Tavassoli, M, Watts, F Z   +6 more
core   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

THE USE OF INTERCHANGES INVOLVING CHROMOSOME 6 IN MAIZE IN STUDIES OF CHROMOSOME SEGREGATION [PDF]

, 1961
Mahmoud Ibrahim
openalex   +1 more source

Identification of histone deacetylase inhibitor targeting type I interferon and B‐cell abnormalities in systemic lupus erythematosus

Arthritis &Rheumatology, Accepted Article.
Objective Systemic lupus erythematosus (SLE) is characterized by increased type I interferon (IFN‐I) and autoantibody production. This study aimed to identify drugs that can inhibit both IFN‐I and autoantibody production. Methods We identified an inhibitor of IFN‐I production from a chemical library.
Takehiro Hirayama, Hachiro Konaka, Yasuhiro Kato, Takayuki Shibahara, Chisato Nishizawa, Kohei Tsujimoto, JeongHoon Park, Eri Itotagawa, Tatsunori Jo, Masayuki Nishide, Sumiyuki Nishida, Yoshihito Shima, Masashi Narazaki, Wataru Aoki, Ken J Ishii, Hyota Takamatsu, Atsushi Kumanogoh   +16 more
wiley   +1 more source