Results 61 to 70 of about 2,249,426 (311)

Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions

Hereditary Cancer in Clinical Practice
Background Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via microsatellite
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker   +2 more
doaj   +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

Protein pyrophosphorylation by inositol pyrophosphates — detection, function, and regulation

FEBS Letters, EarlyView.
Protein pyrophosphorylation is an unusual signaling mechanism that was discovered two decades ago. It can be driven by inositol pyrophosphate messengers and influences various cellular processes. Herein, we summarize the research progress and challenges of this field, covering pathways found to be regulated by this posttranslational modification as ...
Sarah Lampe, Tanmay Kumar Mohanty, Rashna Bhandari, Dorothea Fiedler   +3 more
wiley   +1 more source

Practice-based competencies for accreditation of and training in graduate programs in genetic counseling [PDF]

, 1996
In January 1996, the American Board of Genetic Counseling (ABGC) adopted 27 practice-based competencies as a standard for assessing the training of graduate students in genetic counseling.
Morris B. Fiddler, Baker, Diane L., Fine, Beth A., Fiddler, Morris B., Beth A. Fine, Diane L. Baker   +5 more
core   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

FEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

Midwives’ Approach to Genetic Diseases and Genetic Counseling in Denizli, Turkey

, 2006
The purpose of this study was to evaluate Denizli midwives' self-reported knowledge of genetic diseases and genetic counseling. Data was collected on forms that obtained information about midwives approaches to basic genetics, genetic disorders, and ...
Beyza Akdağ, Tomatır, Ayşe Gaye, Aysun Özşahin, Akdağ, Beyza, Sorkun, H.C., Ayşe Gaye Tomatır, Özşahin, Aysun, Huriye Demirhan, Hülya Çetin Sorkun, Demirhan, Huriye   +9 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

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

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

A descriptive study of the genetic counseling environment of men with breast cancer in the United States [PDF]

, 2013
In society, breast cancer is erroneously considered to be a female disease. Information regarding the psychosocial, sociocultural, and familial experiences of men diagnosed with breast cancer remains scant.
Hight, Elizabeth
core