Acta Dermato-Venereologica, 2019 Nail-patella syndrome is an autosomal dominant disorder characterized by nail dysplasia and skeletal anomaly. Some patients have been shown to have ultrastructural abnormalities of the glomerular basement membrane that result in nephrosis.
Satoru Shinkuma +9 more
doaj +1 more source
The C. elegans LIM homeobox gene lin-11 specifies multiple cell fates during vulval development [PDF]
, 2003 LIM homeobox family members regulate a variety of cell fate choices during animal development. In C. elegans, mutations in the LIM homeobox gene lin-11 have previously been shown to alter the cell division pattern of a subset of the 2° lineage vulval ...
Gupta, Bhagwati P. +2 more
core +1 more source
A Synonymous Genetic Alteration of LMX1B in a Family with Nail-Patella Syndrome [PDF]
, 2009 The gene responsible for nail-patella syndrome, LMX1B, has recently been identified on chromosome 9q. Here we present a patient with nail-patella syndrome and an autosomal dominant pattern of inheritance.
Bongers +22 more
core +2 more sources
Nail bed expansion: A new technique for correction of multiple isolated congenital micronychia
Advanced Biomedical Research, 2014 Congenital micronychia may involve big toes or may involve other nails. The etiology of micronychia is not clear but amniotic bands, teratogens (drugs, alcohol), Nail Patella Syndrome etc. A 44-year-old woman with multiple isolated congenital micronychia
Gholamhossein Ghaffarpour +3 more
doaj +1 more source
Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis [PDF]
, 2013 Microcephaly represents one of the most obvious clinical manifestations of impaired neurogenesis. Defects in the DNA damage response, in DNA repair, and structural abnormalities in centrosomes, centrioles and the spindle microtubule network have all been
Abramowicz, Iga +4 more
core +1 more source
Focal segmental glomerulosclerosis: Molecular genetics and targeted therapies [PDF]
, 2015 Recent advances show that human focal segmental glomerulosclerosis (FSGS) is a primary podocytopathy caused by podocyte-specific gene mutations including NPHS1, NPHS2, WT-1, LAMB2, CD2AP, TRPC6, ACTN4 and INF2.
Chen, Ying Maggie, Liapis, Helen
core +2 more sources
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability [PDF]
, 2015 Human ZIC1 (zinc finger protein of cerebellum 1), one of five homologs of the Drosophila pair-rule gene odd-paired, encodes a transcription factor previously implicated in vertebrate brain development.
Forecki, J. (Jennifer) +17 more
core +1 more source
Nail-Patella Syndrome: A Case Report
Proceedings of Singapore Healthcare, 2013 Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene.
Annie Hui Nee Law MB BCh BAO, MRCP(UK), MMED +1 more
doaj +1 more source
Bilateral congenital absence of the patella in an adult: case report [PDF]
, 2018 Bilaterally absent patella is a rare clinical entity. Most documented cases occur in association with Nail- Patella Syndrome. This patient presented at 60 years of age with severe bilateral knee arthritis and was found to have bilaterally absent patella ...
Murithi, J.K. +2 more
core +2 more sources
Prevalence of Disorders Recorded in Dogs Attending Primary-Care Veterinary Practices in England [PDF]
, 2014 Purebred dog health is thought to be compromised by an increasing occurence of inherited diseases but inadequate prevalence data on common disorders have hampered efforts to prioritise health reforms. Analysis of primary veterinary practice clinical data
A Agresti +89 more
core +3 more sources