Results 241 to 250 of about 93,321 (331)

The Heterotaxy Gene CCDC11 Is Important for Cytokinesis via RhoA Regulation

Cytoskeleton, Volume 82, Issue 6, Page 360-371, June 2025.
ABSTRACT Mutations in CCDC11 (cfap53) have been identified in multiple patients with heterotaxy (Htx), a disorder of left–right (LR) patterning of the internal organs. In Xenopus, depletion of Ccdc11 causes defects in LR patterning, recapitulating the patient phenotype. Upon Ccdc11 depletion, monociliated cells of the Left–Right Organizer (LRO) exhibit
Saurabh S. Kulkarni, Rachel E. Stephenson, Sarah Amalraj, Angelo Arrigo, Ewelina Betleja, James J. Moresco, John R. Yates III, Moe R. Mahjoub, Ann L. Miller, Mustafa K. Khokha   +9 more
wiley   +1 more source

A Comprehensive Review of Mitochondrial Complex I During Mammalian Oocyte Maturation

genesis, Volume 63, Issue 3, June 2025.
ABSTRACT This review provides a comprehensive overview of Complex I during mammalian oocyte maturation. Complex I (NADH:ubiquinone oxidoreductase) is a crucial member of the electron transport chain and serves two principal functions during oxidative phosphorylation: NADH oxidation and proton pumping.
Nazlican Bozdemir, Ceren Cakir, Ulas Topcu, Fatma Uysal   +3 more
wiley   +1 more source

Chromosome-specific aberrations, rather than general aneuploidy, may drive mouse embryonic stem cell-derived teratoma metastasis. [PDF]

Stem Cell Res Ther
Montilla-Rojo J, Hillenius S, Eleveld TF, Salvatori DCF, Looijenga LHJ.   +4 more
europepmc   +1 more source

Rapid determination of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple pregnancies [PDF]

, 2000
C.-P. Chen
openalex   +1 more source

Pregnancy after cancer: FIGO Best practice advice

International Journal of Gynecology &Obstetrics, Volume 169, Issue 3, Page 1119-1126, June 2025.
Abstract Advances in cancer care have led to a growing number of cancer survivors globally. As cancer increasingly affects women and people of reproductive age, more individuals will be experiencing pregnancy after completing cancer treatment. This Best Practice Advice manuscript describes the epidemiology of pregnancy after cancer, recommended ...
Cynthia Maxwell, Sumaiya Adam, Lina Bergman, Surabhi Nanda, Valerie Tiempo Guinto, Noa Popovits‐Hadari, Maisah Al‐Bakri, Ifeyinwa Nwokoro, Fionnuala McAuliffe, Inge Peters, Catherine Nelson‐Piercy, Frederic Amant, Melanie Nana, Graeme Smith, Jonathan Berek, Orla McNally, Long Nguyen‐Hoang, Virna P. Medina‐Palmezano, Sharleen O'Reilly, Francisco Ruiloba, Pat O'Brien, Bo Jacobsson, Sarikapan Wilailak, Liona C. Poon   +23 more
wiley   +1 more source

Do morphological anomalies reflect chromosomal aneuploidies?*: Case Report [PDF]

, 2000
Stéphane Viville, Richard Mollard, Marie-Lorraine Bach, Cédric Falquet, P Gerlinger, Stéphanie Warter   +5 more
openalex   +1 more source

Exploring preferences and support needs for disclosing 47, XXY status: A qualitative study of adults with XXY

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract There are minimal guidelines regarding the disclosure of XXY, otherwise called Klinefelter syndrome, in healthcare or within the family. The increased use of cell‐free DNA (cfDNA) to screen for fetal aneuploidy and sex chromosomes bolsters the importance of providing genetic counselors, other healthcare professionals (HCPs), and parents with ...
Cassandra Oeckinghaus, Kimberly Zayhowski, Kayla Horowitz, Darius Haghighat   +3 more
wiley   +1 more source

CRISPR/Cas-Based Prenatal Screening for Aneuploidy: Challenges and Opportunities for Early Diagnosis. [PDF]

Medicina (Kaunas)
Ganesh I, Karthiga I, Murugan M, Rangarajalu K, Ballambattu VB, Ravikumar S.   +5 more
europepmc   +1 more source

Assessment of sex chromosome aneuploidy in sperm nuclei from 47,XXY and 46,XY/47,XXY males: comparison with fertile and infertile males with normal karyotype [PDF]

, 2000
Nathalie Rives
openalex   +1 more source

Patient care practices for LGBTQ+ individuals in clinical genetics: A scoping review

Journal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Individuals who are LGBTQ+ (Lesbian, Gay, Bisexual, Transgender, Queer/Questioning, and/or have a sexual orientations and/or gender identity beyond cisheteronormative conceptions) face systemic barriers to healthcare, leading to significant health inequities. To address these challenges, genetic providers must better understand and inclusively
Kimberly Zayhowski, Kayla Horowitz, Molly Bostrom, Kathleen F. Mittendorf, Megan Kocher, Jehannine (J9) Austin, Ian M. MacFarlane   +6 more
wiley   +1 more source