Results 91 to 100 of about 3,055,534 (337)

Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability

Human Genome Variation
A young patient diagnosed with advanced colon cancer and liver metastasis was found to have familial adenomatous polyposis (FAP) through comprehensive genomic analysis.
Hiroki Tanabe, Masami Ijiri, Kenji Takahashi, Honoka Sasagawa, Tomomi Kamanaka, Shohei Kuroda, Hiroki Sato, Takeo Sarashina, Yusuke Mizukami, Yoshio Makita, Toshikatsu Okumura   +10 more
doaj   +1 more source

Next-Generation Service Delivery: A Scoping Review of Patient Outcomes Associated with Alternative Models of Genetic Counseling and Genetic Testing for Hereditary Cancer

Cancers, 2018
The combination of increased referral for genetic testing and the current shortage of genetic counselors has necessitated the development and implementation of alternative models of genetic counseling and testing for hereditary cancer assessment.
J. McCuaig, S. Armel, M. Care, A. Volenik, R. Kim, K. Metcalfe   +5 more
semanticscholar   +1 more source

ITGAV and SMAD4 influence the progression and clinical outcome of pancreatic ductal adenocarcinoma

Molecular Oncology, EarlyView.
In SMAD4‐positive pancreatic ductal adenocarcinoma (PDAC), integrin subunit alpha V (ITGAV) activates latent TGF‐β, which binds to the TGF‐β receptor and phosphorylates SMAD2/3. The activated SMAD2/3 forms a complex with SMAD4, and together they translocate to the nucleus, modulating gene expression to promote proliferation, migration, and invasion. In
Daniel K. C. Lee, Keyue Chen, Ryan Loke, Xiang Li, David Liubart, Golam T. Saffi, Jonathan T. S. Chow, Ché M. P. Melo, Lydia To, Leonardo Salmena   +9 more
wiley   +1 more source

RKIP overexpression reduces lung adenocarcinoma aggressiveness and sensitizes cells to EGFR‐targeted therapies

Molecular Oncology, EarlyView.
RKIP, a metastasis suppressor protein, modulates key oncogenic pathways in lung adenocarcinoma. In silico analyses linked low RKIP expression to poor survival. Functional studies revealed RKIP overexpression reduces tumor aggressiveness and enhances sensitivity to EGFR‐targeted therapies, while its loss promotes resistance.
Ana Raquel‐Cunha, Joana Pinheiro, Rui F. Marques, Patrícia Fontão, Diana Cardoso‐Carneiro, Adriana Mendes, Izabela N. F. Gomes, Ana Carolina Laus, Renato J. da Silva‐Oliveira, Rui Manuel Reis, Olga Martinho   +10 more
wiley   +1 more source

Bibliometric analysis of genetic counseling publications in Asia: Insights and implications

Genetics in Medicine Open
Purpose: Investigation of genetic counseling-related published papers offers a historical assessment of the cumulative scientific knowledge produced by members of the profession and can be the basis for future practice, training, and research. This paper
Peter James B. Abad, Ma-Am Joy R. Tumulak, Sook-Yee Yoon, Mercy Y. Laurino, Qurratulain Hasan   +4 more
doaj   +1 more source

CHROMOSOME ANALYSIS BEFORE BIRTH AND ITS VALUE IN GENETIC COUNSELLING [PDF]

, 1972
M Ferguson-Smith, M.A. Ferguson‐Smith, N. C. Nevin, Malcolm Stone   +3 more
openalex   +1 more source

Nicotinamide N‐methyltransferase promotes drug resistance in lung cancer, as revealed by nascent proteomic profiling

Molecular Oncology, EarlyView.
AZD9291 has shown promise in targeted cancer therapy but is limited by resistance. In this study, we employed metabolic labeling and LC–MS/MS to profile time‐resolved nascent protein perturbations, allowing dynamic tracking of drug‐responsive proteins. We demonstrated that increased NNMT expression is associated with drug resistance, highlighting NNMT ...
Zhanwu Hou, Zhen Wang, Fei Yang, Xiao Han, Lei Li, Huadong Liu   +5 more
wiley   +1 more source

Genetic Counselling and Social Aspects of Prenatal and Newborn Population Screening [PDF]

, 1972
Valerie Cowie
openalex   +1 more source

Decrypting cancer's spatial code: from single cells to tissue niches

Molecular Oncology, EarlyView.
Spatial transcriptomics maps gene activity across tissues, offering powerful insights into how cancer cells are organised, switch states and interact with their surroundings. This review outlines emerging computational, artificial intelligence (AI) and geospatial approaches to define cell states, uncover tumour niches and integrate spatial data with ...
Cenk Celik, Shi Pan, Eloise Withnell, Hou Wang Lam, Maria Secrier   +4 more
wiley   +1 more source

Recent advances in ophthalmic genetics. Genetic counselling. [PDF]

, 1974
Barrie Jay
openalex   +1 more source