Results 71 to 80 of about 2,677 (178)
Human Mutation, Volume 2026, Issue 1, 2026.Background Nodal involvement constitutes a pivotal prognostic indicator in colorectal carcinoma, yet the transcriptional machinery governing lymphatic dissemination and tumor‐microenvironment crosstalk remains poorly elucidated. Conventional bulk sequencing methodologies lack sufficient resolution to deconvolve functionally distinct malignant subclones
Wu Ning +6 more
wiley +1 more source
X‐linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
Annals of Neurology, 2002 AbstractAmong creatine deficiency syndromes, an X‐linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a ...
Bizzi, A. +8 more
openaire +3 more sources
Contributions of SGK3 to transporter-related diseases
Frontiers in Cell and Developmental Biology, 2022 Serum- and glucocorticoid-induced kinase 3 (SGK3), which is ubiquitously expressed in mammals, is regulated by estrogens and androgens. SGK3 is activated by insulin and growth factors through signaling pathways involving phosphatidylinositol-3-kinase ...
Qian-Qian Liao +6 more
doaj +1 more source
Cerebral Creatine Deficiency Syndromes [PDF]
, 2012 Introduction: Creatine deficiency syndromes are a recently described group of diseases characterized by inborn errors of creatine metabolism. Clinical features include a spectrum of neurodevelopment disorders of diverse severity.
Diogo, L +4 more
core
Traumatic spinal cord injury; Theranostic applications of advanced MRI techniques [PDF]
, 2015 Imaging technology is an important part of the diagnosis and management of spinal trauma. However, many efforts have been made to develop new diagnostic biomarkers through advanced imaging techniques.
Afshari, Daryoush. +6 more
core +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Transporters
British Journal of Pharmacology, Volume 182, Issue S1, Page S404-S496, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +28 more
wiley +1 more source
Molecular genetics of intellectual disability [PDF]
, 2012 The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including ...
Bessa, C., Lopes, Fátima, Maciel, P.
core +2 more sources
Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?
Acta Ophthalmologica, Volume 103, Issue 7, Page e436-e455, November 2025.Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs +12 more
wiley +1 more source
Creatine transporter deficiency: Novel mutations and functional studies
Molecular Genetics and Metabolism Reports, 2016 X-linked cerebral creatine deficiency (MIM 300036) is caused by deficiency of the creatine transporter encoded by the SLC6A8 gene. Here we report three patients with this condition from Israel.
O. Ardon +12 more
doaj +1 more source
Changes in the folding landscape of the WW domain provide a molecular mechanism for an inherited genetic syndrome [PDF]
, 2016 WW domains are small domains present in many human proteins with a wide array of functions and acting through the recognition of proline-rich sequences.
D'Amelio, N +6 more
core +4 more sources