Results 121 to 130 of about 68,825 (297)

FBXO47 regulates centromere pairing as key component of centromeric SCF E3 ligase in mouse spermatocytes

Communications Biology
Centromere pairing is crucial for synapsis in meiosis. This study delves into the Skp1-Cullin1-F-box protein (SCF) E3 ubiquitin ligase complex, specifically focusing on F-box protein 47 (FBXO47), in mouse meiosis.
Ani Ma, Yali Yang, Lianbao Cao, Lijun Chen, Jian V. Zhang   +4 more
doaj   +1 more source

Mesenchymal Stem Cells From a Klinefelter Syndrome Patient: Functional Characterization and Therapeutic Implications

Andrology, EarlyView.
ABSTRACT Background Cell therapy, particularly those utilizing mesenchymal stem/stromal cells (MSCs), is gaining traction as a therapeutic option for regenerative treatment in patients with limited therapeutic options. Although the safety of MSC‐based interventions is well established, uncertainties remain regarding how genetic abnormalities and ...
Marzena Zychowicz, Wioletta Lech, Anna Figiel‐Dabrowska, Marta Kot, Magdalena Murzyn, Natalia Malawska, Barbara Pienkowska‐Grela, Zuzanna Sandowska‐Markiewicz, Iwona Ziolkowska‐Suchanek, Agnieszka Zimna, Tomasz Oldak, Natalia Rozwadowska, Anna Sarnowska   +12 more
wiley   +1 more source

Centromere on the Move [PDF]

Genome Research, 2001
L H, Wong, K H, Choo
openaire   +2 more sources

Assessing a Model for a Complex Systemic Disorder—The Value of Male Mice With a Supernumerary X Chromosome for Klinefelter Syndrome Research

Andrology, EarlyView.
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley   +1 more source

Centromere emergence in evolution

, 2001
Evolutionary centromere repositioning is a paradox we have recently discovered while studying the conservation of the phylogenetic chromosome IX in primates.
VENTURA, MARIO, Nicoletta Archidiacono, Mario Ventura, Mariano Rocchi, ROCCHI, Mariano, ARCHIDIACONO, Nicoletta   +5 more
core   +1 more source

A CCNA1 Missense Variant Associated With Chromatid Non‐Disjunction in Abnormal‐Headed Sperm and Male Infertility

Andrology, EarlyView.
ABSTRACT Background Macrozoospermia is a rare form of teratozoospermia characterized by tetraploids, large‐headed spermatozoa with multiple flagella, usually caused by bi‐allelic AURKC mutations. The etiology of atypical phenotypes with a lower proportion of large headed spermatozoa and single flagella however often remains unresolved.
Aurore Perrin, Frédéric Morel, Zeina Wehbe, Cynthia Frapsauce, Nadia Gueganic, Corinne Tous, Séverine Commet, Laura Dijols, Audrey Basinko, Nathalie Douet‐Guilbert, Célia Tebbakh, Zine‐Eddine Kherraf, Pierre F. Ray, Charles Coutton, Guillaume Martinez   +14 more
wiley   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

Chromosome congression by CENP-E and CENP-Q dependent pathways [PDF]

The timely and efficient movement of chromosomes to the spindle equator during mitosis is a prerequisite for accurate chromosome segregation.
Bancroft, James M.
core  

A genetic and historical perspective on the origins of keratitis fugax hereditaria

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the genetic and genealogical background of keratitis fugax hereditaria (KFH), a periodic corneal disease caused by the heterozygous pathogenic variant c.61G>C in the NLRP3 gene. KFH is characterized by recurrent unilateral autoinflammatory attacks alternating between the eyes and permanent corneal opacities.
Annamari T. Immonen, Sara P. Luostarinen, Päivi Lahermo, Sabita Kawan, Kati Donner, Joseph D. Terwilliger, Michael P. Backlund, Joni A. Turunen   +7 more
wiley   +1 more source

Kinetochore mutations and histone phosphorylation pattern changes accompany holo- and macro-monocentromere evolution

Nature Communications
Centromeres are essential for kinetochore assembly and spindle attachment. While chromosomes of most species are monocentric with a single centromere, a minority exhibit holocentricity, with a centromere along the chromatid length.
Yi-Tzu Kuo, Pavel Neumann, Jianyong Chen, Jörg Fuchs, Veit Schubert, Katrin Kumke, Mariela Analia Sader, Michael Melzer, Zihao Zhu, Axel Himmelbach, Heiko Hentrich, Jiří Macas, Andreas Houben   +12 more
doaj   +1 more source