Publications by authors named "H J Baelde"
Diabetic nephropathy (DN) is a major cause of global kidney failure. While histological kidney biopsy is the gold standard for diagnosis, it primarily reveals tissue morphology. In contrast, near-infrared (NIR) microscopy offers a label-free method for detailed molecular characterization of kidney tissue.
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- Juvenile xanthogranuloma (JXG) is a type of skin tumor mostly found in children, but some cases occur in other parts of the body, and their genetic causes are not fully understood.* -
- A study analyzed 16 children and 5 adults with extracutaneous JXG using advanced sequencing, finding that numerous genetic alterations, especially related to kinase fusions, were present in most children.* -
- The findings indicate that while surgery is common for treatment, some cases can regress on their own, and specific genetic alterations could help inform better treatment options in the future.*
TGF-β is considered an important cytokine in the development of interstitial fibrosis in chronic kidney disease. The TGF-β co-receptor endoglin (ENG) tends to be upregulated in kidney fibrosis. ENG has two membrane bound isoforms generated via alternative splicing.
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- A new recessive genetic disorder called NIT1-small vessel disease has been identified, caused by variants in the NIT1 gene that lead to loss of function.* -
- Researchers analyzed seven patients using various techniques like exome sequencing and MRI, discovering significant brain abnormalities and movement disorders primarily presenting in mid-adulthood.* -
- The disease is characterized by a specific set of symptoms including dilated perivascular spaces in the basal ganglia and intracerebral hemorrhages, highlighting its unique features among cerebral small vessel diseases.*
Transcriptomic profiling of Polycystic Kidney Disease identifies paracrine factors in the early cyst microenvironment.
Biochim Biophys Acta Mol Basis Dis
February 2024
Initial cysts that are formed upon Pkd1 loss in mice impose persistent stress on surrounding tissue and trigger a cystic snowball effect, in which local aberrant PKD-related signaling increases the likelihood of new cyst formation, ultimately leading to accelerated disease progression. Although many pathways have been associated with PKD progression, the knowledge of early changes near initial cysts is limited. To perform an unbiased analysis of transcriptomic alterations in the cyst microenvironment, microdomains were collected from kidney sections of iKsp-Pkd1 mice with scattered Pkd1-deletion using Laser Capture Microdissection.
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