Results 51 to 60 of about 6,215 (307)

HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models

Annals of Neurology, EarlyView.
Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer, A. Marie Phillips, Marie Chabbert, Jennifer Bourreau, Reza Maroofian, Henry Houlden, Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin, Boris Keren, Perrine Charles, Thomas Smol, Audrey Riquet, Lynn Pais, Anne O'Donnell‐Luria, Grace E. VanNoy, Allan Bayat, Rikke S Møller, Kern Olofsson, Rami Abou Jamra, Steffen Syrbe, Majed Dasouki, Laurie H. Seaver, Jennifer A. Sullivan, Vandana Shashi, Fowzan S. Alkuraya, Alexis F. Poss, J. Edward Spence, Rhonda E. Schnur, Ian C. Forster, Chaseley E. Mckenzie, Cas Simons, Min Wang, Penny Snell, Kavitha Kothur, Michael Buckley, Tony Roscioli, Noha Elserafy, Benjamin Dauriat, Vincent Procaccio, Daniel Henrion, Guy Lenaers, Estelle Colin, Nienke E. Verbeek, Koen L. Van Gassen, Claire Legendre, Dominique Bonneau, Christopher A. Reid, Katherine B. Howell, Alban Ziegler, Christian Legros   +52 more
wiley   +1 more source

IVF for premature ovarian failure: first reported births using oocytes donated from a twin sister

Reproductive Biology and Endocrinology, 2010
Background Premature ovarian failure (POF) remains a clinically challenging entity because in vitro fertilisation (IVF) with donor oocytes is currently the only treatment known to be effective.
Sills Eric, Brady Adam C, Omar Ahmed B, Walsh David J, Salma Umme, Walsh Anthony PH   +5 more
doaj   +1 more source

Technological Innovations and Applications of Spatial Transcriptomics in Livestock and Poultry Research

Animal Research and One Health, EarlyView.
The paper is divided into three main sections: a review of the development of spatial transcriptomics technology, its applications in livestock and poultry research, and its future prospects. This article provides an overview of the current state of spatial transcriptomics in animal research, exploring its integration with multiomics technologies as ...
Mingyu Wang, Ao Guo, Lin Zhang, Shengru Wu, Juan Du, Taiyong Yu   +5 more
wiley   +1 more source

Sex‐Based Differences in Prenatal and Perinatal Predictors of Autism Spectrum Disorder Using Machine Learning With National Health Data

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder influenced by genetic, epigenetic, and environmental factors. ASD is characterized by a higher prevalence in males compared to females, highlighting the potential role of sex‐specific risk factors in its development.
Ju Sun Heo, Seung‐Woo Yang, Sohee Lee, Kwang‐Sig Lee, Ki Hoon Ahn   +4 more
wiley   +1 more source

Age, Race, and Ethnicity of Maternal Grandparents in Autism Spectrum Disorder, a California Multigenerational Study

Autism Research, EarlyView.
ABSTRACT We investigated associations between maternal grandparents' age and autism spectrum disorders (ASD) in grandchildren, exploring differences by race/ethnicity. In a multigenerational California birth cohort study including 1,743,998 and 1,630,722 mother–child pairs (with 27,975 and 25,816 ASD cases, respectively), we examined ASD risk by ...
Ting Chow, Qi Meng, Jingyuan Xiao, Karl O'Sharkey, Zeyan Liew, Beate Ritz   +5 more
wiley   +1 more source

Psychological factors influencing oocyte donation: A study of Indian donors

Open Health
Infertility is a significant global health issue, particularly in developing nations, where oocyte donation has become crucial for women facing poor oocyte quality.
Lakhote Niharika, Gokani Kairavi H., Vora Priyanka H., Ganla Kedar N., Joshi Manisha   +4 more
doaj   +1 more source

Oocyte donation: Ethics of oocyte donation are challenged by the health care system [PDF]

Human Reproduction, 1996
SCOPUS: re.j ; info:eu-repo/semantics ...
openaire   +2 more sources

Advances in methodologies for quantifying protein–protein interactions in living cells

Bulletin of the Korean Chemical Society, EarlyView.
Measuring the binding affinities of protein–protein interactions (PPIs) is important for understanding underlying biological mechanisms. As methods for studying PPIs differ between in vitro and in‐cell conditions due to environmental differences, it is crucial to stay informed about recent trends and methodologies in both experimental contexts ...
Soojung Yi, Yejin Ahn, Nam Ki Lee
wiley   +1 more source

Turner syndrome: counseling prior to oocyte donation

São Paulo Medical Journal, 2007
Ovarian failure is a typical feature of Turner syndrome (TS). Patients are followed clinically with hormone replacement therapy (HRT) and inclusion in the oocyte donation program, if necessary.
Ester Silveira Ramos
doaj   +1 more source

PLK4: Master Regulator of Centriole Duplication and Its Therapeutic Potential

Cytoskeleton, EarlyView.
ABSTRACT Centrosomes catalyze the assembly of a microtubule‐based bipolar spindle, essential for the precise chromosome segregation during cell division. At the center of this process lies Polo‐Like Kinase 4 (PLK4), the master regulator that controls the duplication of the centriolar core to ensure the correct balance of two centrosomes per dividing ...
Muhammad Hamzah, Franz Meitinger, Midori Ohta   +2 more
wiley   +1 more source