Results 71 to 80 of about 3,482,680 (357)

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

A Review and Definition of “Usual Care” in Genetic Counseling Trials to Standardize Use in Research

Journal of Genetic Counseling, 2020
The descriptor ‘usual care’ refers to standard or routine care. Yet, no formal definition exists. The need to define what constitutes usual care arises in clinical research.
B. Biesecker, Sarah E Lillie, L. Amendola, Katherine E. Donohue, K. East, A. K. Foreman, Marian J Gilmore, V. Greve, Billie Liangolou, Julianne M. O’Daniel, Jacqueline A. Odgis, Shannon Rego, Brad Rolf, S. Scollon, Sabrina A. Suckiel, Jamilyn M Zepp, Galen Joseph   +16 more
semanticscholar   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

A case report of PGAP2-related hyperphosphatasia with impaired intellectual development syndrome in a Chinese family and literature review

Frontiers in Pediatrics
Recently, mutations have been identified in six genes (PIGA, PIGY, PIGO, PGAP2, PIGW and PGAP3) encoding proteins in the Glycosyl phosphatidylinositol(GPI)-anchor-synthesis pathway in individuals with hyperphosphatasia with impaired intellectual ...
Yijun Pan, Bin Ren, Lijuan Chen, Qiang Li   +3 more
doaj   +1 more source

MAGENTA (Making Genetic testing accessible): a prospective randomized controlled trial comparing online genetic education and telephone genetic counseling for hereditary cancer genetic testing

BMC Cancer, 2019
Background Studies have consistently indicated that the majority of individuals meeting the US Prevention Services Task Force guidelines for genetic testing have not had genetic counseling or testing.
Nadine Rayes, Deborah J. Bowen, Tara Coffin, Denise Nebgen, Christine Peterson, Mark F. Munsell, Kathleen Gavin, Rebecca Lechner, Jamie Crase, Deborah Polinsky, Iris Romero, Stephanie V. Blank, Douglas A. Levine, Barbara M. Norquist, Elizabeth M. Swisher, Karen H. Lu   +15 more
doaj   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source

Issues, challenges, and future perspectives of genetic counseling in Republic of Korea: Perspectives of laboratory physicians based on a 2022 survey

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, Jieun Kim, committee of Genetic Counseling in Korean Society for Genetic Diagnostics (KSGD), Soo Hyun Seo, Jungwon Huh, Jongha Yoo, Do-Hoon Kim, Sun-Young Kong, Eul Joo Seo   +8 more
core   +1 more source

Clinical genetic counselor experience in the adoption of telehealth in the United States and Canada during the COVID‐19 pandemic

, 2021
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, Ahimaz, Priyanka R., Ma, Daria, Mohan, Pooja, Jessica L. Giordano, Cook, Lola, Lola Cook, Daria Ma, Stephanie A. Cohen, Priyanka R. Ahimaz, Giordano, Jessica L., Cohen, Stephanie A., Mirocha, James M., Pooja Mohan   +13 more
core   +1 more source

Qatar’s genetic counseling landscape: Current insights and future prospects

Genetics in Medicine Open
Genetic counseling is a dynamic and rapidly growing field. In Qatar, the significance of genetic counseling is underscored by the distinctive demographic characteristics of the population, including elevated rates of consanguinity and larger family sizes,
Sumaya Abiib, Houssein Khodjet-El-khil, Karen El-Akouri, Reem Ibrahim Bux, Zoulikha Rezoug, Wafa Abualainin, Moza Alkowari, Sara Osman Musa, Mariam Al Mulla, Rehab Al Saleh, Noora Shahbeck, Maria Farag, Said I. Ismail, Reem Al Sulaiman, Tawfeg Ben-Omran, Asma Al-Thani, Mashael Al-Shafai   +16 more
doaj   +1 more source

Racial disparities in cancer genetic counseling encounters: study protocol for investigating patient-genetic counselor communication in the naturalistic clinical setting using a convergent mixed methods design

BMC Cancer, 2023
Background Despite decades of effort to reduce racial cancer disparities, Black people continue to die at higher rates from cancer than any other U.S. racial group.
Nao Hagiwara, Nadia Harika, Erin P. Carmany, Yongyun Shin, Susan Eggly, Shawn C. T. Jones, John Quillin   +6 more
doaj   +1 more source