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Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D
TLDR
The data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype, and it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse. Expand
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta.
TLDR
Next-generation sequencing is applied to analyze the exome of a single individual who has a severe form of OI and whose parents are second cousins to provide genetic evidence for PEDF involvement in human bone homeostasis. Expand
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss
TLDR
A novel genetic subtype for Usher syndrome is described, which is named USH 2D and which is caused by mutations in whirlin, the first case of USH2 that is allelic to non-syndromic deafness. Expand
Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
TLDR
It is suggested that modified microtubule stability and growth direction caused by loss of KIF7 function may be an underlying disease mechanism contributing to JBTS. Expand
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.
TLDR
It is determined that mutations in PDZ domain-containing 7 (PDZD7), which encodes a homolog of proteins mutated in Usher Syndrome subtype 1C (USH1C) and USH2D, contribute to Usher syndrome. Expand
ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3
TLDR
It is shown that ANKS6 localizes to the proximal cilium and confirmed its role in renal development through knockdown experiments in zebrafish and Xenopus laevis, and network analyses uncovered additional putative NPHP proteins and placed AN KS6 at the center of this N PHP module, explaining the overlapping disease manifestation caused by mutation in ANKS 6, NEK8, INVS or NPHp3. Expand
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.
TLDR
The identification of mutations in a third pre-mRNA splicing factor gene further highlights a novel mechanism of photoreceptor degeneration due to defects in the splicing process. Expand
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
TLDR
These findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes. Expand
The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration
TLDR
A homozygous loss-of-function germline mutation in WWOX is identified in a girl from a consanguineous family with a severe syndrome of growth retardation, microcephaly, epileptic seizures, retinopathy and early death, indicating its importance for human viability. Expand
Impaired calmodulin binding of myosin‐7A causes autosomal dominant hearing loss (DFNA11)
TLDR
A defect in CaM/MYO7A interaction represents a novel pathomechanism for genetic hearing loss and provides an attractive molecular target for therapeutic interventions aimed to delay or prevent the onset of hearing loss in families with mutations in myosin IQ domains. Expand
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