Results 201 to 210 of about 185,788 (293)

Ensuring fidelity of chromosome segregation

Molecular Biology of the Cell, 2018
Ünal, Elçin, Torres, Jorge Z
openaire   +4 more sources

Chromodomain Helicase DNA–Binding Proteins and Spermatogenesis: Current Advances

Andrology, EarlyView.
ABSTRACT Background Male infertility is a prevalent clinical condition, with approximately one‐third of cases classified as idiopathic, frequently stemming from impaired spermatogenesis because of dysregulated gene expression. Chromodomain helicase DNA‐binding (CHD) proteins are central chromatin remodelers that orchestrate this epigenetic regulation ...
Mingrui Zhang, Di Liu, Guoqiang Liu, Minggang Zhu, Feng Pan   +4 more
wiley   +1 more source

Maternal CENP-C restores centromere symmetry in mammalian zygotes to ensure proper chromosome segregation. [PDF]

Dev Cell
Tower CA, Manske G, Ferrell EL, Anbarci DN, Jorgensen K, Ma B, Aboelenain M, Ranjan R, Chakraborty S, Moritz L, Das A, Boiani M, Black BE, Chavez S, Marsh EE, Shikanov A, Schindler K, Chen X, Hammoud SS.   +18 more
europepmc   +1 more source

Identification and functional validation of a novel disease‐causing variant in the noncoding region of NYX

Acta Ophthalmologica, EarlyView.
Abstract Purpose Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, with ~30% of cases remaining genetically unsolved. Complete congenital stationary night blindness (cCSNB) is a subtype of IRD, usually associated with reduced visual acuity, nystagmus and high myopia.
Filip Spanic, Christelle Michiels, Julien Navarro, Aline Antonio, Christel Condroyer, Camille Andrieu, Billy Gipsy, Sylvie Berthémy‐Pellet, Mathilde Gallice, Isabelle Audo, Christina Zeitz   +10 more
wiley   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

The microtubule-severing enzyme spastin regulates spindle dynamics to promote chromosome segregation in Trypanosoma brucei. [PDF]

Commun Biol
Souza Onofre T, Zhou Q, Li Z.
europepmc   +1 more source

A highly abundant circular RNA from the RMST locus plays a role in posterior fossa ependymoma pathogenesis

Brain Pathology, EarlyView.
circRMST (hsa_circ_0099634) is by far the most abundant isoform from the RMST locus. It is highly expressed in cancer cells throughout ependymoma patient samples and is located in the cytoplasm. circRMST knockdown causes cell cycle arrest and induces differentiation, and it is a marker for poor prognosis. The figure is made using BioRender.
Ulvi Ahmadov, Charlotte W. Udengaard, Stine M. Vissing, Silke D. Nielsen, Kim‐Gwendolyn Dietrich, Benedicte Parm Ulhøi, Lasse S. Kristensen   +6 more
wiley   +1 more source

Chromosome segregation errors during early embryonic development. [PDF]

Reprod Med Biol
Kyogoku H.
europepmc   +1 more source

Optic nerve sheath meningioma exhibits neural niche‐associated transcriptomic features and rare copy number variation‐linked evolution

Brain Pathology, EarlyView.
Optic nerve sheath meningiomas are typically NF2‐intact with few copy number alterations and are generally clinically indolent. Rare aggressive recurrences are associated with progressive accumulation of copy number variations, including CDKN2A/B homozygous deletion, 1q gain, and 14q loss.
Daisuke Sato, Satoru Miyawaki, Yu Sakai, Kenta Ohara, Yu Teranishi, Yudai Hirano, Motoyuki Umekawa, Takahiro Tsuchiya, Shotaro Ogawa, So Hirata, Hiroki Hongo, Hideaki Ono, Daisuke Komura, Tetsuo Ushiku, Shumpei Ishikawa, Nobuhito Saito   +15 more
wiley   +1 more source

Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome. [PDF]

Nat Commun
Li Z, Yang W, Wu G, Chang TC, Cheng Z, Devidas M, Shago M, Carroll AJ, Heerema NA, Gastier-Foster JM, Wood BL, Sanclemente L, Raetz EA, Hunger SP, Loh ML, Feingold E, Rosser TC, Allen EG, Sherman SL, Rabin KR, Lupo PJ, Yang JJ.   +21 more
europepmc   +1 more source