Results 211 to 220 of about 616,821 (255)

Broader Familial Cancer Risk in Relatives of Testicular Cancer Patients: Insights From Two Mediterranean Populations

Andrology, EarlyView.
ABSTRACT Background Familial clustering of testicular germ cell tumour (TGCT) is well‐established, whereas the risk of non‐testicular cancer among relatives remains inconsistent across studies. Objective To evaluate the overall and site‐specific cancer risk among first‐degree relatives and grandparents of TGCT patients compared to cancer‐free controls.
Csilla Krausz, Chiara Abrardo, Viktoria Rosta, Daniel Moreno‐Mendoza, Luca Bressan, Matteo Vannucci, Rebecca Passerotti, Arianna Meacci, Ginevra Farnetani, Viola Bonini, Giovanni Corona, Maria Grazia Fino, Eduard Ruiz‐Castañé, Antoni Riera‐Escamilla   +13 more
wiley   +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

The fetal phenotype is a trajectory, not a snapshot

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
The evolving fetal phenotype. Serial prenatal ultrasound may reveal emerging or changing fetal features that inform reassessment of genetic findings. Reporting the timing of observations, changes in the fetal phenotype and any subsequent revision of variant interpretation helps clarify the contribution of longitudinal imaging to prenatal diagnosis ...
Florian Recker, Adeline Walter, Ulrich Gembruch   +2 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

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

Chromosome segregation errors during early embryonic development. [PDF]

Reprod Med Biol
Kyogoku H.
europepmc   +1 more source

Dystrophia Smolandiensis is characterized by a novel NQO1 variant and a distinct phenotype from COL17A1‐associated epithelial recurrent erosion dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To determine the molecular cause of the two epithelial recurrent erosion dystrophies, Dystrophia Smolandiensis and Dystrophia Helsinglandica, and to identify phenotypic differences between the two conditions. Methods DNA samples and clinical data from structured interview records were obtained from the Swedish families in which ...
Karl De Geer, Kristina Lagerstedt‐Robinson, Daniel Nilsson, Cilla Söderhäll, Björn Hammar, Erik Björck   +5 more
wiley   +1 more source

Mechanisms, Machinery, and Dynamics of Chromosome Segregation in Zea mays. [PDF]

Genes (Basel)
Duffy ME, Ngaw M, Polsky SE, Marzec AE, Zhang SS, Dzierzgowski OR, Nannas NJ.   +6 more
europepmc   +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

Acta Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina, Most Champa Begum, Xuan Tung Trinh, Turkuler Özgumus, Mikael Åkerlund, Peter Nilsson, Leticia Maria Spindola, Valeriya Lyssenko   +7 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