Results 131 to 140 of about 54,677 (265)

Fetal Fraction Signatures: A Quality Control Tool to Detect Potentially Confounding Situations in NonInvasive Prenatal Diagnosis of Monogenic Conditions

Clinical Genetics, EarlyView.
Noninvasive prenatal diagnosis for monogenic diseases (NIPD‐M) to detect inherited mutations is performed in parallel with fetal fraction signatures, to detect various anomalies that may compromise diagnosis. An extra regression analysis may be necessary to resolve mosaic situations. ABSTRACT Noninvasive prenatal diagnosis relies on the analysis of the
Jean‐Louis Blouin, Claudine Rieubland, Thierry Nouspikel   +2 more
wiley   +1 more source

Use of whole genome sequencing to identify chromosome-specific egg aneuploidy in a mouse model of natural reproductive aging [PDF]

, 2014
Nathan R. Treff, Xin Tao, H. Garnsey, C. Bohrer, Deanne Taylor, Richard T. Scott, Teresa K. Woodruff, Francesca E. Duncan   +7 more
openalex   +1 more source

Abnormal cleavage patterns in equine in vitro‐produced embryos lead to higher early pregnancy loss

Equine Veterinary Journal, EarlyView.
Summary Background Despite significant advances, in vitro production (IVP) of equine embryos continues to lack standardised embryo classification criteria and is associated with increased rates of early pregnancy loss compared with in vivo‐derived blastocysts.
Soledad Martin‐Pelaez, Alejandro de la Fuente, Kazuki Takahashi, Hugo Monteiro, Mauricio Mendes, Stuart Meyers, Pouya Dini   +6 more
wiley   +1 more source

Leishmania donovani's protein tyrosine phosphatases interact with DUF21 and respond to environmental magnesium

The FEBS Journal, EarlyView.
The Leishmania phosphatase PTP1, and possibly the genetically similar PTP2, interacts with the Leishmania transmembrane protein DUF21. When both ptp1 and ptp2 are knocked out of Leishmania (LdΔPTP1/2), the parasite can no longer survive without magnesium in vitro and has reduced viability in the host macrophage. Conversely, in duf21 knockout (LdΔDUF21),
Kayla Paulini, Hira Khursheed, Wen Wei Zhang, Isabelle Aubry, Greg Matlashewski, Michel L. Tremblay, Patrick Lypaczewski   +6 more
wiley   +1 more source

Single-cell sequencing shows mosaic aneuploidy in most human embryos

The Journal of Clinical Investigation
Mammalian preimplantation embryos often contain chromosomal defects that arose in the first divisions after fertilization and affect a subpopulation of cells — an event known as mosaic aneuploidy. In this issue of the JCI, Chavli et al.
Sarah A. Robertson, Robert I. Richards
doaj   +1 more source

THESEUS1 is a component of the receptor complex for establishing polytubey block in Arabidopsis

Journal of Integrative Plant Biology, EarlyView.
THESEUS1 (THE1) is a component of the CrRLK1L‐RALF signaling complex specifically responsible for establishing the polytubey block at the Arabidopsis septum. Genetic and biochemical analyses demonstrate that THE1, together with FERONIA, ANJ and HERK1, forms a receptor complex that senses pollen tube‐derived RALF peptides, thereby establishing a barrier
Qiyun Li, Xuefei Li, Sufan Yuan, Zhihui Feng, Li‐Jia Qu, Sheng Zhong   +5 more
wiley   +1 more source

Bisphenol‐A induces cellular transformation, aneuploidy and DNA adduct formation in cultured Syrian hamster embryo cells [PDF]

, 1998
Takeki Tsutsui, Yukiko Tamura, Eiichi Yagi, Koko Hasegawa, M. Takahashi, Noriko Maizumi, Fusae Yamaguchi, J. Carl Barrett   +7 more
openalex   +1 more source

Predicting Malignant Transformation in Oral Leukoplakia: A Multilayer Perceptron Approach Incorporating Clinicopathological Features and DNA Content

Journal of Oral Pathology &Medicine, EarlyView.
ABSTRACT Background Oral leukoplakia (OL) is a potentially malignant disorder of the oral mucosa. Accurate prediction of malignant transformation (MT) remains a clinical challenge. This study aimed to develop and evaluate a machine learning model that integrates histopathological, demographic, and DNA content features to predict MT risk in OL.
Guilherme Iani Pontes, Anna Luíza Damaceno Araújo, Andresa Borges Soares, Saman Warnakulasuriya, André Luis Santana de Freitas, Caroline Gennari Stevão, Marcelo Sperandio, Matheus Cardoso Moraes   +7 more
wiley   +1 more source

Segmental aneuploidies in fetuses with isolated echogenic intracardiac focus among women younger than 35 years [PDF]

, 2020
Jing Wang, Lin Chen, Li Wang, Daishu Yin, Yang Zeng, Feng Tang, Yu Tian, Hongqian Liu   +7 more
openalex   +1 more source

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source