Results 41 to 50 of about 46,283 (291)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Isolated imperforate anus in dizygotic twins

Journal of Pediatric Surgery Case Reports, 2023
The authors report an isolated imperforate anus case in a dizygotic twin, which is the first reported case in the literature, the other reported cases were in monozygotic twins.
Dania Alameh, Hanin Shatrit, Mariam Thalji, Asil Yagmour, Motee Abuawaad   +4 more
doaj  

Discordant renal progression of Fabry disease in male monozygotic twins: a case report

Frontiers in Genetics, 2023
Background: Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the GLA gene that encodes α-galactosidase A (α-GAL).
Do-Yun Lee, Jun-Yeong Jeong, Seung-Eun Lee, Jae-Hun Lee, Ju-Young Moon, Su Woong Jung, Sang-Ho Lee, Yang Gyun Kim   +7 more
doaj   +1 more source

Amino acid intakes are associated with bone mineral density and prevalence of low bone mass in women: evidence from discordant monozygotic twins [PDF]

, 2015
Although a higher protein intake, particularly from vegetable sources, has been shown to be associated with higher bone mineral density (BMD) the relative impact of specific amino acids (AA) on BMD and risk of osteoporosis remains to be determined ...
Ammann, Andrew, Arden, Arnett, Beasley, Beasley, Bingham, Bingham, Bingham, Black, Buclin, Cherkas, Chevalley, Conigrave, Crawley, Darling, Dawson-Hughes, Fenton, Fini, Fujita, Goel, Hall, Hannan, Holmes, Hu, Ishihara, Jesudason, Kroke, Laudermilk, Liu, Massey, Melendez-Hevia, Munger, Promislow, Rapuri, Rennie, Ryder, Sahni, Sahni, Shea, Teucher, Weikert, Welch, Welch, Yang, Zhang   +45 more
core   +1 more source

Integration of Bioengineered Tools in Assisted Reproductive Technologies

Advanced Healthcare Materials, EarlyView.
A conceptual illustration depicting the collaboration between a medical professional (right) and a scientist (left). Their connection highlights the integration of scientific research and clinical practice. This representation underscores the role of emerging technologies in bridging fundamental research with applied reproductive healthcare.
Aslı Ak, Edith Coonen, Ron van Golde, Erik Vrij   +3 more
wiley   +1 more source

Gastritis Stages in Monozygotic and Dizygotic Dyspeptic Twins

Gastroenterology Research and Practice, 2020
Background. The progression of Helicobacter pylori-associated gastritis towards atrophic gastritis is modulated by host-related and environmental factors.
Mindaugas Urba, Jurgita Skieceviciene, Dainius Janciauskas, Laimas Jonaitis, Limas Kupcinskas, Matteo Fassan, Massimo Rugge, Juozas Kupcinskas   +7 more
doaj   +1 more source

Narcolepsy with cataplexy in monozygotic twins

Sleep Science, 2014
This paper describes narcolepsy with cataplexy in two monozygotic twin sisters.To clinically illustrate the involvement of neurological, genetic and immunologic systems in narcolepsy.We performed a restropective study of these patients that were followed in the sleep medicine ambulatory clinic of the Faculdade de Medicina de Ribeirao Preto.These ...
Heidi H. Sander, Leonardo Ierardi Goulart, Mário Pedrazolli, Alexandre H. Martori, Alan Luiz Eckeli   +4 more
openaire   +4 more sources

Blastocyst-ET and Monozygotic Twinning [PDF]

Journal of Assisted Reproduction and Genetics, 2000
To examine the rate of monozygotic twinning associated with blastocyst transfer using commercially available, cell-free culture systems with unmanipulated blastocysts.A retrospective analysis was conducted in multiple private and academic infertility centers throughout the United States, of 199 pregnant patients following in vitro fertilization (IVF ...
Catherine Racowsky, Barry Behr, Thomas B. Pool, Amin A. Milki, Katherine Miller, Jeffrey D Fisch   +5 more
openaire   +2 more sources

FemXpress: Systematic Analysis of X Chromosome Inactivation Heterogeneity in Female Single‐Cell RNA‐Seq Samples

Advanced Science, EarlyView.
FemXpress is a computational tool that leverages X‐linked single nucleotide polymorphisms (SNPs) to group cells by the origin of the inactivated X chromosome in female single‐cell RNA sequencing (scRNA‐Seq) data. It demonstrates strong performance on both simulated and real datasets without requiring parental genomic information, and can also identify ...
Xin Wang, Yingke Ma, Fan Li, Wentao Cui, Tianshi Pan, Siqi Wang, Sinan Ma, Qingtong Shan, Chao Liu, Yukai Wang, Ying Zhang, Yuanchun Zhou, Wei Li, Pengfei Wang, Qi Zhou, Guihai Feng   +15 more
wiley   +1 more source

Born to Fear the Machine? Genetic and Environmental Influences on Negative Attitudes toward AI Agents

Advanced Science, EarlyView.
Why do some people fear or distrust AI agents more than others? This twin study shows that negative attitudes toward AI may partly stem from genetic factors, linking them to traits like victim sensitivity and moral beliefs. These findings show that it is not only nurture but also nature that shapes our views of AI, with implications for future human–AI
Xiaojiayu Tan, Yue He, Yuan Zhou, Xinying Li, Qingwen Ding, Yikai Tang, Yu L. L. Luo, Ruolei Gu   +7 more
wiley   +1 more source