A Stride, AT Hattersley - Annals of Medicine, 2002 - informahealthcare.com Maturity-onset diabetes of the young (MODY) is a genetic subgroup of diabetes characterised
by an autosomal domi- nant inheritance and early onset, non-insulin dependent diabetes. This
results from a monogenic defect causing beta- cell dysfunction. The defining of five genes ... Cited by 113 - Related articles - BL Direct - All 7 versions
C Bingham, S Ellard… - Kidney international, 2003 - nature.com Familial juvenile hyperuricemic nephropathy (FJHN) is a dominantly inherited condition characterized
by young-onset hyperuricemia, gout, and renal disease. The etiologic genes are unknown, although
a locus on chromosome 16 has been identified in some kindreds. Mutations in the gene ... Cited by 50 - Related articles - BL Direct - All 4 versions
S Bohn, H Thomas, G Turan, S Ellard, C … - Journal of the American …, 2003 - Am Soc Nephrol The tissue-specific transcription factor hepatocyte nuclear factor 1 (HNF1 ) is expressed in epithelial
cells of many organs, including the pancreas and the kidney (1). Heterozygous mutations in the
human HNF1 gene cause a subtype of maturity-onset diabetes of the young (MODY) ... Cited by 40 - Related articles - BL Direct - All 5 versions
C Cheung, TE Akiyama, G Kudo, FJ Gonzalez - Biochemical pharmacology, 2003 - Elsevier Hepatocyte nuclear factor 1 alpha (HNF1α) is a liver enriched homeodomain-containing transcription
factor that has been shown to transactivate the promoters of several cytochrome P450 (CYP)
genes, including CYP2E1, CYP1A2, CYP7A1, and CYP27, in vitro. In humans, mutations ... Cited by 33 - Related articles - All 5 versions
FMA Giuffrida, AF Reis - Diabetes Obesity and Metabolism, 2005 - interscience.wiley.com Genetic factors play an important role in various forms of diabetes mellitus (DM), but inheritance
is complex and interacts with environmental factors. Although in most cases type 2 DM
(T2DM) and T1DM are polygenic disorders, several monogenic forms have been ... Cited by 32 - Related articles - All 4 versions
- ►endojournals.org H Furuta, M Furuta, T Sanke, K Ekawa, T … - Journal of Clinical …, 2002 - Endocrine Soc Mutations in transcription factors expressed in the pancreatic ß-cell are a major cause of
maturity-onset diabetes of the young (MODY). They have also been found in patients diagnosed
with type 1 and type 2 diabetes mellitus, which may highlight the difficulty in diagnosing ... Cited by 29 - Related articles - BL Direct - All 4 versions
- ►diabetesjournals.org H Rahmoune, PW Thompson, JM Ward, CD Smith, G … - Diabetes, 2005 - Am Diabetes Assoc The bulk of glucose that is filtered by the renal glomerulus is reabsorbed by the glucose transporters
of the proximal convoluted tubular epithelium. However, it has been difficult to investigate this
in diseases such as type 2 diabetes because of the inability to isolate primary renal cells ... Cited by 17 - Related articles - BL Direct - All 6 versions
- ►physiology.org S Broer - Physiology, 2008 - Am Physiological Soc Protein absorption in the intestine is accomplished by a combination of proteases,
peptidases, and peptide and amino acid transporters (35). Together, they accomplish absorption
of 95% of the nutritional protein intake. After being absorbed, amino acids are distributed ... Cited by 4 - Related articles - BL Direct - All 6 versions
J Skupien, G Kepka, S Gorczynska- … - The Review of …, 2007 - pubmedcentral.nih.gov Apolipoprotein M (apoM) is a 26-kDa protein expressed mainly in the liver and kidneys. It is present
predominantly in high-density lipoproteins (HDL). ApoM expression is influenced by the hepatocyte
nuclear factor-1α (HNF-1α), which is a transcription factor associated with the ... Cited by 4 - Related articles - All 3 versions
D Magen, L Adler, H Mandel, E Efrati, I Zelikovic - American Journal of Kidney …, 2004 - Elsevier The best described primary inherited proximal tubulopathies include X-linked hypercalciuric
nephrolithiasis (XLHN), caused by a mutation in the chloride channel gene CLCN5, and classic
Fanconi's syndrome, the genetic basis of which is unknown. The aim of this study is to ... Cited by 4 - Related articles - BL Direct - All 12 versions
