Results 111 to 120 of about 46,292 (229)

Biogenesis of TNF‐α‐insights into proteostasis and inflammation

The FEBS Journal, EarlyView.
TNF‐α biogenesis, trafficking, and signalling are tightly and reciprocally coupled to cellular proteostasis systems, including ER chaperones and endoplasmic reticulum‐associated degradation. This bidirectional crosstalk determines whether TNF‐α responses are adaptive or proteotoxic.
Bailasan Haidar, Céline Philippe, Eric Chevet, Jiří Zahradník   +3 more
wiley   +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

Clinical Use of Combined First-Trimester Screening Test for Aneuploidy in A Low-Income Setting: Retrospective Study. [PDF]

Health Sci Rep
Diress T, Wondafrash M, Gudu W, Abdosh AA, Sium AF.   +4 more
europepmc   +1 more source

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source

Misdiagnosis of different types of aneuploidy in preimplantation genetic testing (PGT): a systematic review and meta-analysis. [PDF]

Arch Gynecol Obstet
Jiang W, Hu Z, Han Y, Shi J, Chen K, Lian Y, Li W, Hao P, Zhou Z, Wu Z, Li Y, Wu X, Li M, Deng L, Zheng H, Bi Z, Ding L, Pan X, Ma R, Tang Z, Mu J, Xie X, Li Y, Yan J.   +23 more
europepmc   +1 more source

Aneuploidy [PDF]

, 2019
openaire   +1 more source

The Patient, the Provider, and the TikTok Creator: Qualitative Analysis of the Content and Quality of Videos on Prenatal Genetic Screening

Journal of Midwifery &Women's Health, EarlyView.
Introduction Although providers may view the use of the noninvasive prenatal testing (NIPT) screen as an opportunity for patients to learn more about potential chromosomal variants of a fetus, research suggests that patients may view the genetic screening test primarily as an opportunity to learn about their fetus's sex chromosomes and may not ...
Erin P. Johnson, Naomi O. Riches, Stephanie Arceneaux, Emma Murdock, Caitlin Quade, Susanna R. Cohen, Robin E. Jensen   +6 more
wiley   +1 more source

Aneuploidy in exfoliated buccal cells: mechanisms, methods, and future perspectives. [PDF]

Mutagenesis
Kirsch-Volders M, Mišík M, Fenech M.
europepmc   +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

Indication and diagnostic method selection for invasive prenatal genetic testing – review of the literature and conclusions of the Austrian consensus conference on prenatal genetic testing. [PDF]

Med Genet
Verheyen S, Pertl B, Bierbaumer S, Fazelnia C, Jauch SF, Klaritsch P, Krampl-Bettelheim E, Kühberger S, Reischer T, Reiter R, Scharnreitner I, Steiner H, Zschocke J, Pfeifer M.   +13 more
europepmc   +1 more source