Results 101 to 110 of about 3,482,680 (357)

An unexpected alternative viologen electron mediator site in tungsten‐containing formate dehydrogenase

FEBS Letters, EarlyView.
An unexpected alternative interaction site for ethyl viologen was identified in formate dehydrogenase 1 from Methylorubrum extorquens. Combined mutagenesis, kinetic analysis, and docking revealed that aromatic residues near an iron–sulfur cluster enable flavin mononucleotide‐independent electron transfer, offering a framework for engineering improved ...
Eleni G. Poloniataki, Yong Hwan Kim
wiley   +1 more source

Genetic counseling for advanced paternal age: A survey of genetic counselors' current practice

, 2021
Advanced paternal age (APA) has no formal definition, though many publications utilize the cutoff of fathers >40 years of age. The literature demonstrates an association between APA and certain conditions including de novo autosomal dominant disorders ...
Quirin, Kayla, Kayla Quirin, Wetherill, Leah, Hines, Karrie A., Leah Wetherill, Karrie A. Hines   +5 more
core   +1 more source

Psychological Well-Being (PWB) dan Pengambilan Keputusan untuk Mengikuti Konseling Genetika pada Orangtua Anak dengan Talasemia Mayor

Psikologika: Jurnal Pemikiran dan Penelitian Psikologi, 2012
Parents' understanding about psychological well-being could affect their efforts in facing and accepting the children with thalassemia major. Genetic counseling and genetic screening are some attempts made to provide an understanding about this illness ...
Costrie G. Widayanti, Kartika Sari Dewi
doaj   +1 more source

Ubiquitination of secretory granules promotes their crinophagic degradation in Drosophila

FEBS Letters, EarlyView.
Ubiquitination of secretory granules in Drosophila larval salivary glands is a critical molecular trigger for crinophagy, the lysosomal degradation of unreleased, or low‐quality granules. The E3 ubiquitin ligase Cnot4 is recruited to the surface of secretory granules to induce crinophagy.
Tamás Csizmadia, Anna Dósa, Asha Kiran Maddali, András Jipa, Hajnalka Laczkó‐Dobos, Péter Lőw, Gábor Juhász   +6 more
wiley   +1 more source

Information Related to Prenatal Genetic Counseling: Interpretation by Adolescents, Effects on Risk Perception and Ethical Implications

, 2011
Being raised in the genomic era may not only increase knowledge of available genetic testing but may also have an impact on how genetic information is perceived.
Melas, Philippe A, Juth, Niklas, Niklas Juth, Susanne Georgsson Öhman, Philippe A. Melas, The‐Hung Bui, Georgsson Öhman, Susanne,, Bui, The-Hung   +7 more
core   +1 more source

Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy

, 2021
The 2020 COVID-19 pandemic has rendered in-person provision of genetic counseling impossible for prolonged periods in many countries, mandating a sudden shift to remote delivery.
Battistuzzi L., Bertonazzi B., Godino L., Turchetti D.   +3 more
core   +1 more source

Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population

Scientific Reports
Copy number variations in the SMN1 gene on chromosome 5 are the primary cause of Spinal Muscular Atrophy (SMA) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord.
Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoumeh Akbari Kelishomi, Fariba Afroozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Mohammadamin Omrani, Haleh Habibi, Maryam Taghdiri, Isa Abdi Rad, Shahriar Nafissi, Aria Jankhah, Hilda Yazdan, Parvaneh Daneshmand, Seyed Hosseinali Saberi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabadi   +19 more
doaj   +1 more source

From mice to humans—divergent strategies for intestinal homeostasis and regeneration

FEBS Letters, EarlyView.
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, Shinya Sugimoto, Toshiro Sato   +2 more
wiley   +1 more source

Structural insights and therapeutic targets in Acinetobacter baumannii capsule biosynthesis

FEBS Letters, EarlyView.
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, Junho Jeong, Chae Yeong Lee, Hyunjoon Cho, Man Hwan Oh, Je Chul Lee, Jee‐Young Lee, Yangmee Kim   +7 more
wiley   +1 more source

Tumour–host interactions in Drosophila: mechanisms in the tumour micro‐ and macroenvironment

Molecular Oncology, EarlyView.
This review examines how tumour–host crosstalk takes place at multiple levels of biological organisation, from local cell competition and immune crosstalk to organism‐wide metabolic and physiological collapse. Here, we integrate findings from Drosophila melanogaster studies that reveal conserved mechanisms through which tumours hijack host systems to ...
José Teles‐Reis, Tor Erik Rusten
wiley   +1 more source