Results 71 to 80 of about 2,249,426 (311)
What Information Do Cancer Genetic Counselees Prioritize?
This study explored the informational needs of individuals attending genetic counseling for hereditary cancer, using a free-choice and a forced choice method. Prior to the consultation the informational needs of 334 counselees from Sweden and Norway were
Ingvoldstad, Charlotta, +27 more
core +1 more source
The COVID‐19 pandemic has significantly impacted the service delivery model (SDM) of clinical genetic counseling across the United States and Canada. A cross‐sectional survey was distributed to 4,956 genetic counselors (GCs) from the American Board of ...
James M. Mirocha +13 more
core +1 more source
This study reveals that the small GTPase Rab14 is necessary for human papillomavirus (HPV) infection and plays an essential role in the transport of virions to the trans‐Golgi network (TGN). HPV in the early endosome (EE), which harbors GTP‐bound Rab14, is transported to the TGN through the switch of Rab14 from its GTP‐bound to GDP‐bound form.
Yoshiyuki Ishii, Iwao Kukimoto
wiley +1 more source
Since Long QT syndrome and Hypertrophic cardiomyopathy are inherited cardiac disorders that may cause syncope, palpitations, serious arrhythmias, and sudden cardiac death, at-risk individuals may experience heart-focused anxiety.
Bjorvatn, Cathrine +11 more
core +1 more source
Degradation mechanism of the von Willebrand factor A2 domain by nattokinase
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto +3 more
wiley +1 more source
THE FREQUENCY OF GENETIC EYE DISEASES IN A GENETIC-COUNSELING CENTER
In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented, The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation ...
ELCIOGLU, M, FUHRMANN, W, ELCIOGLU, N
core
Bicuspid Aortic Valve: a Review with Recommendations for Genetic Counseling
Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects.
Stephanie M. Ware +7 more
core +1 more source
From mice to humans—divergent strategies for intestinal homeostasis and regeneration
Recent advances such as organoid genome editing, xenotransplantation, imaging, and whole‐genome sequencing have enabled direct studies of human intestinal stem cells (ISCs). These studies reveal species‐specific features, including slower ISC proliferation, distinct injury responses, slower somatic mutation accumulation in humans, and an inverse ...
Keiko Ishikawa +2 more
wiley +1 more source
Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis
Hypervirulent KL49 A. baumannii's capsular polysaccharide contains the nonulosonic acid 8‐epi‐Leg5,7Ac2, synthesized by epimerization via ElaA, ElaB, and ElaC. Crystal structures of ElaA, ElaB, and ElaC reveal their role in CMP‐Leg5,7Ac2 synthesis and regioselective C8 epimerization.
Woo Cheol Lee +7 more
wiley +1 more source
The field of genetic counseling (GC) in the Republic of Korea has evolved from a single medical doctor's clinic to a multidisciplinary service with medical geneticists and non-medical professionals working as a team.
Namhee Kim +8 more
core +1 more source

