Results 161 to 170 of about 224,855 (298)

ZNF844 Suppresses Invasion and Metastasis in Nasopharyngeal Carcinoma by Inhibiting the PI3K‐AKT Signaling Pathway

open access: yesCancer Science, EarlyView.
ZNF844 functions as a tumor suppressor in NPC by inhibiting invasion and metastasis through regulation of the PI3K‐AKT signaling pathway. It may serve as a promising therapeutic target and prognostic biomarker for NPC. ABSTRACT Epigenetic regulation plays a crucial role in the development of nasopharyngeal carcinoma (NPC).
Jinping Xu   +7 more
wiley   +1 more source

Dynamics of Apolipoprotein J Levels and Metabolic Parameters Following Bariatric Surgery

open access: yesClinical Endocrinology, EarlyView.
ABSTRACT Objective Bariatric surgery has emerged as a potent intervention for ameliorating insulin resistance and its associated comorbidities in obese patients. Apolipoprotein J (ApoJ) and adiponectin are closely associated with insulin resistance and sensitivity, respectively.
Kellen Cristina da Cruz Rodrigues   +7 more
wiley   +1 more source

From the rare to the essential: analyzing the needs of physicians and families managing rare diseases. [PDF]

open access: yesBMC Health Serv Res
Mussio I   +6 more
europepmc   +1 more source

How Has the Rise of Direct‐To‐Consumer Genetic Testing Impacted Genetic Counselling Practice? A Scoping Review

open access: yesClinical Genetics, EarlyView.
This scoping review consolidated research on genetic health practitioners' (GHPs) and direct to consumer genetic testing (DTC‐GT) consumer needs and identified gaps. Thematic analysis identified four domains: GHPs' views, GHPs' perceptions of the impact of DTC‐GT on consumers, how DTC‐GT impacted services and how DTC‐GT impacted roles.
Cushla McKinney   +3 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

open access: yesClinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru   +16 more
wiley   +1 more source

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

open access: yesClinical Genetics, EarlyView.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig   +5 more
wiley   +1 more source

Home - About - Disclaimer - Privacy