Results 171 to 180 of about 2,249,426 (311)

Prenatal Diagnosis and Genetic Counseling of Mucopolysaccharidosis Type Ii (Hunter Syndrome)

, 2008
We present prenatal diagnosis of mucopolysaccharidosis type II (MPS II) ( Hunter syndrome) and demonstrate marked mucopolysaccharide deposition in multiple vital organs in a 22-gestational-week affected fetus.
CHEN, CHIH-PING;LIN, SHUAN-PEI;TZEN, CHIN-YUAN;HWU, WUH-LIANG;CHERN, SCHU-RERN;WANG, WAY-SEEN, 陳持平;林炫沛;曾岐元;胡務亮;陳樹人;王偉信   +1 more
core  

Digital genetic counseling services for cascade cardiogenetic testing. [PDF]

J Genet Couns
van Lingen MN, van Till SAL, Giesbertz NAA, Beinema TC, Ausems MGEM, Klaassen R, Cornel MC, van den Heuvel LM, van Tintelen JP.   +8 more
europepmc   +1 more source

Loss of AMBRA1 activates MAPK and angiogenesis signaling pathways in melanoma cells

FEBS Open Bio, EarlyView.
Loss of AMBRA1 in melanoma cells activates multiple oncogenic pathways associated with tumor progression. Transcriptomic and protein network analyses revealed that AMBRA1 depletion enhances MAPK/ERK signaling, angiogenesis, TGF‐β/EMT signaling, and Wnt/axon guidance pathways.
Milad Ibrahim, Marco Corazzari, Iman Osman, Jane Armstrong, Noel Carter   +4 more
wiley   +1 more source

Carrier screening and genetic counseling in high-consanguinity populations: a narrative review. [PDF]

J Community Genet
Zakariyah A, Banaganapalli B.
europepmc   +1 more source

Treatment with KCL‐286, a first‐in‐class retinoic acid receptor‐β (RARβ) agonist, ameliorates neuronal DNA damage and inflammation in a mouse model of Alzheimer's disease

FEBS Open Bio, EarlyView.
Repair of neuronal DNA damage in Alzheimer's disease by KCL‐286. (A) Amyloid‐β oligomers and plaques impair neuronal DNA repair pathways, leading to DNA double‐strand breaks and glial activation. (B) KCL‐286 activates RARβ/RXR signalling via retinoic acid response elements (RAREs), associated with increased BRCA1 expression, enhanced DNA repair and ...
Natasha Hill, Hassan Yousef Othman AlMuallim, Elouisa Maddock, Carl Hobbs, Earl Clarke, Maria B. Goncalves, Jonathan P. T. Corcoran   +6 more
wiley   +1 more source

Genetic Counseling in Aotearoa New Zealand: Context, Practice and the Future of Genomic Healthcare. [PDF]

J Genet Couns
Swainson E, Fraser HG, Cheng LL, Collis S, Christian A, Gamet K, McEwen A.   +6 more
europepmc   +1 more source

Pathways and pitfalls: a qualitative study of student experiences in biomedical science education

FEBS Open Bio, EarlyView.
Biomedical science students from underrepresented backgrounds face barriers including financial strain, disrupted laboratory access and cultural exclusion. Peer networks provide vital support when institutional systems are difficult to navigate. To create inclusive learning environments and achieve academic success, educators should blend active, hands‐
Olivia J. Russell, Cassy Ross, Panagiota S. Filippou, Bruno Silvester Lopes, Dominic Gilchrist, Paul Dean, Kamar Ameen‐Ali, Tora K. Smulders‐Srinivasan, Ahmad A. Khundakar   +8 more
wiley   +1 more source

PSYCHE AND HELIX: PSYCHOLOGICAL ASPECTS OF GENETIC COUNSELING: ESSAYS BY SEYMOUR KESSLER, PH.D.

, 2000
Preface / Robert G. Resta -- Ch.1. Analysis of a transcript -- Ch. 2. Quantitative analysis of a transcript of a genetic counseling session -- Ch. 3. Management of guilt and shame -- Ch. 4. Suffering and countertransference -- Ch. 5. Preselection: a
Resta, Robert G., ed.
core  

Current Practices for Evaluating Clinical Supervisors in North American Genetic Counseling Programs. [PDF]

J Genet Couns
Schulz S, Wainstein T, Armel SR, Scott J, Oh T.   +4 more
europepmc   +1 more source

Yeast Gcn2 retains activity following humanization of its auto‐phosphorylation region

FEBS Open Bio, EarlyView.
Using Saccharomyces cerevisiae as a model to study Gcn2 activation and regulation is limited by the lack of antibodies detecting phosphorylated Gcn2. To overcome this, we engineered Gcn2‐HsC, a yeast Gcn2 variant recognizable by commercial anti‐human phospho‐GCN2 antibodies.
Reuben A. Anderson, Anja H. Schiemann, Evelyn Sattlegger   +2 more
wiley   +1 more source