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Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
TLDR
A unique role for LMX1B in renal development and in patterning of the skeletal system is demonstrated, and it is suggested that alteration of Lmxlb/LMx1B function in mice and humans results in similar phenotypes.
Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues.
TLDR
The nuclear distribution and the selective pattern of expression support the proposed role of WT1 as a transcription factor active during urogenital development and the persistence ofWT1 expression in the adult kidney suggests a role in homeostasis of the podocyte.
Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome
TLDR
In Lmx1b−/− mice, expression of both α(3)IV and α(4)IV collagen is strongly diminished in GBM, whereas that of α1, α2 and α5(IV) collagen is unchanged, and LMX1B binds specifically to a putative enhancer sequence in intron 1 of both mouse and human COL4A4 and upregulates reporter constructs containing this enhancer-like sequence.
LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
TLDR
It is proposed that haploinsufficiency of LETM1 may contribute to the neuromuscular features of WHS patients.
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
TLDR
It is shown that human LETM1 is located in the inner membrane, exposed to the matrix and oligomerized in higher molecular weight complexes of unknown composition, and caused 'necrosis-like' death, without activation of caspases and not inhibited by overexpression of Bcl-2.
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene
TLDR
Novel transcripts are identified which represent alternative transcripts of the SNRPN gene that are expressed from the paternal chromosome only and intragenic deletions and a point mutation in patients who have Angelman or Prader–Willi syndrome due to a parental imprint switch failure are identified.
Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing
TLDR
The identification and characterization of a novel human transcript related to a putative Caenorhabditis elegans protein and the trp (transient receptor potential) gene is described, indicating allele-specific inactivation of the maternal copy by genomic imprinting.
The type II collagenopathies: A spectrum of chondrodysplasias
TLDR
Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondylo-epiphyseal dysplasia congenita, Kniest Dysplasia, Stickler arthro-opthalmopathy and mild dominant spondYLoarthropathy.
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)
TLDR
Findings indicate that deficiency of UBR1 perturbs the pancreas' acinar cells and other organs, presumably owing to metabolic stabilization of specific substrates of the N-end rule pathway.
LMX1B transactivation and expression in nail-patella syndrome.
TLDR
In situ hybridizations of Lmx1b on murine limb sections reveal strong expression in dorsal mesenchymal tissues and, interestingly, also in anterior structures of the limb, explaining the anterior to posterior gradient of joint and nail dysplasia observed in NPS patients.
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