Now showing items 1-10 of 11
Identification of the human CYS1 gene and candidate gene analysis in Boichis disease
(Springer-Verlag; IPNA, 2003-06)
Recessive mutations cause cystic kidney disease and a variable degree of biliary liver fibrosis in cpk mice. Recently, the responsible murine gene ( Cys1 ) was identified and expression in renal cilia demonstrated. Here ...
WNT signaling affects gene expression in the ventral diencephalon and pituitary gland growth
(Wiley-Liss, Inc., 2008-04)
We examined the role of WNT signaling in pituitary development by characterizing the pituitary phenotype of three WNT knockout mice and assessing the expression of WNT pathway components. Wnt5a mutants have expanded ...
The transmembrane inner ear (tmie) gene contributes to vestibular and lateral line development and function in the zebrafish ( Danio rerio )
(Wiley-Liss, Inc., 2008-04)
The inner ear is a complex organ containing sensory tissue, including hair cells, the development of which is not well understood. Our long-term goal is to discover genes critical for the correct formation and function of ...
Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome
(Springer-Verlag; IPNA, 2006-01)
Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal ...
Genetic interaction between Wnt7a and Lrp6 during patterning of dorsal and posterior structures of the mouse limb
(Wiley-Liss, Inc., 2005-08)
The original article to which this Erratum refers was published in Developmental Dynamics 233:368–372 Developmental Dynamics(2005) 233(2) 368–372
NPHS2 mutation associated with recurrence of proteinuria after transplantation
(Springer-Verlag; IPNA, 2004-05)
Mutations in the NPHS2 gene encoding podocin are associated with steroid-resistant nephrotic syndrome (SRNS) in childhood. Patients usually present with focal segmental glomerulosclerosis (FSGS). It is unclear to what ...
WNT signaling affects gene expression in the ventral diencephalon and pituitary gland growth
(Wiley-Liss, Inc., 2008-06)
WNT5A deficiency causes pituitary dysmorphology and ectopic melanotrope differentiation. Immunohistochemistry for prohormone convertase 2 (PC2) marks melanotrope cells, which are normally confined to the intermediate lobe ...
Acute extrapyramidal syndrome in mild ornithine transcarbamylase deficiency: metabolic stroke involving the caudate and putamen without metabolic decompensation
(Springer-Verlag, 2003-04)
A 6-year-old male with partial ornithine transcarbamylase (OTC) deficiency had acute and rapidly progressive symmetrical swelling of the head of the caudate nuclei and putamina. Clinical presentation was ataxia and dysarthria ...
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations
(Springer-Verlag; IPNA, 2004-12)
Primary steroid-resistant nephrotic syndrome (SRNS) is characterized by childhood onset of proteinuria and progression to end-stage renal disease. In 26% of cases it is caused by recessive mutations in NPHS2 (podocin). ...
Deletion of Chromosome 2 q37 and Autism: A Distinct Subtype?
(Kluwer Academic Publishers-Plenum Publishers; Plenum Publishing Corporation ; Springer Science+Business Media, 1999-06)
Several reports have described the occurrence of chromosome abnormalities in autism, a neuro-developmental disorder characterized by social deficits, communication impairment, and a restricted range of interests. These ...