Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)
Congenital anomalies of the kidney and urinary tract (CAKUT) are among the most common
birth defects worldwide and a major cause of kidney failure in children. Extra-renal …
birth defects worldwide and a major cause of kidney failure in children. Extra-renal …
PBX1: a TALE of two seasons—key roles during development and in cancer
L Crisafulli, M Brindisi, MG Liturri… - Frontiers in Cell and …, 2024 - frontiersin.org
Pre-B cell leukemia factor 1 (PBX1) is a Three Aminoacid Loop Extension (TALE)
homeodomain-containing transcription factor playing crucial roles in organ pattering during …
homeodomain-containing transcription factor playing crucial roles in organ pattering during …
[HTML][HTML] Single Nucleus Sequencing of Human Colon Myenteric Plexus–Associated Visceral Smooth Muscle Cells, Platelet Derived Growth Factor Receptor Alpha …
Background and Aims Smooth muscle cells (SMCs), interstitial cells of Cajal (ICCs), and
platelet-derived growth factor receptor alpha (PDGFRα+) cells (PαCs) form a functional …
platelet-derived growth factor receptor alpha (PDGFRα+) cells (PαCs) form a functional …
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia
F Petzold, W Jin, E Hantmann, K Korbach… - Clinical Kidney …, 2022 - academic.oup.com
Background Congenital abnormalities of the kidney and urinary tract (CAKUT) are
characterized by vast phenotypic heterogeneity and incomplete penetrance. Although …
characterized by vast phenotypic heterogeneity and incomplete penetrance. Although …
Single nucleus sequencing of human colon visceral smooth muscle cells, PDGFRα cells, and interstitial cells of Cajal
Abstract Background and Aims Smooth muscle cells (SMCs), Interstitial cells of Cajal (ICCs),
and PDGFRα+ cells (PαCs) form a functional syncytium in the bowel known as the 'SIP …
and PDGFRα+ cells (PαCs) form a functional syncytium in the bowel known as the 'SIP …
A Pathogenic Variant of PBX1 Identified by Whole Exome Sequencing in a Chinese CAKUTHED Case
L Nie, Y Li, T Xiao, B Zhang, J Zhao, W Hou - Nephron, 2023 - karger.com
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss,
abnormal ears, or developmental delay (CAKUTHED) is a rare autosomal dominant disorder …
abnormal ears, or developmental delay (CAKUTHED) is a rare autosomal dominant disorder …