Results 131 to 140 of about 3,482,680 (357)

Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype

open access: yesMedical Sciences
Background/Objectives: The Fibroblast Growth Factor Receptor 1 (FGFR1, MIM*136350) is a protein member of the fibroblast growth factor receptor (FGFR) family, with various biological functions, such as the normal development control.
Federica Gaudioso, Giulia Pascolini
doaj   +1 more source

Genetic counselling [PDF]

open access: yesBMJ, 1988
J G, Thornton, R J, Lilford
openaire   +2 more sources

Heterozygous loss‐of‐function alleles associate the conserved 3′‐5′ exoribonuclease EXOSC10 with hypersensitivity to the anticancer drug 5‐fluorouracil

open access: yesMolecular Oncology, EarlyView.
EXOSC10, an essential nuclear RNA exosome‐associated 3′‐5′ exoribonuclease, is inhibited by the anticancer drug 5‐fluorouracil (5‐FU), and EXOSC10 depletion increases 5‐FU sensitivity. The colon‐cancer variant EXOSC10S402T, located in a proteolysis motif, is stable and nuclear but nonfunctional in vivo.
Radhika Sain   +10 more
wiley   +1 more source

Hijacking emergency granulopoiesis: Neutrophil ontogeny and reprogramming in cancer

open access: yesMolecular Oncology, EarlyView.
Neutrophils are highly plastic innate immune cells; their functions in cancer extend beyond the tumour microenvironment. This Review summarises current understanding of neutrophil maturation and heterogeneity and highlights tumour‐induced granulopoiesis as a systemic programme that expands immature, immunosuppressive neutrophils via tumour‐derived ...
Gabriela Marinescu, Yi Feng
wiley   +1 more source

Relational ethics and genetic counseling

open access: yes, 2004
Genetic counseling is viewed as a therapeutic interrelationship between genetic counselors and their clients. In a previous relational ethics research project, various themes were identified as key components of relational ethics practice grounded in ...
Bamforth, Stephen   +3 more
core  

Transcriptional profiling of circulating extracellular vesicles from prebiopsy prostate cancer patients

open access: yesMolecular Oncology, EarlyView.
RNA profiling of circulating extracellular vesicles (EVs) from blood samples of men undergoing prostate biopsy identifies transcripts associated with clinically significant prostate cancer. Integrative analysis with public tumor datasets links EV‐derived gene signatures to tumor stage and progression‐free survival, highlighting CASP3, XRCC2, and RIT1 ...
Stefan Werner   +14 more
wiley   +1 more source

Reasons for Adult Referrals for Genetic Counseling at a Genetics Center in Izmir, Turkey: Analysis of 8965 Cases over an Eleven-Year Period

open access: yes, 2011
A limited numbers of published studies evaluate the referral reasons for genetic counseling services in the literature. These studies are focused on prenatal genetic counseling services, in particular, prenatal diagnosis.
Haluk Akin   +23 more
core   +1 more source

Genetic Counseling in Renal Masses

open access: yesAdvances in Urology, 2008
All urologists have faced patients suffering a renal cancer asking for the occurrence of the disease in their offspring and very often the answer to this question has not been well founded from the scientific point of view, and only in few cases a ...
José Antonio López-Guerrero   +3 more
doaj   +1 more source

Adaptor protein CIN85 potentiates the motility of osteosarcoma cells via the Akt/mTOR and MMP2‐COL3A1 axis

open access: yesMolecular Oncology, EarlyView.
CIN85 is highly expressed in osteosarcoma, particularly in metastatic lesions. Its overexpression increases cell migration and Matrigel invasion, while silencing CIN85 suppresses these behaviors. Transcriptome analysis shows that CIN85 regulates MMP2, COL3A1, and Akt/mTOR signaling. Targeting these pathways reverses CIN85‐induced motility, highlighting
Iryna Horak   +10 more
wiley   +1 more source

Development of genetic counseling in Sweden 1950-1980

open access: yes, 2016
The development of genetic counseling in Sweden in the field of medical genetics emerged in the 1950s, at the department of medical genetics at Uppsala University.
Tunlid, Anna,   +2 more
core  

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