• Publications
  • Influence
Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision
TLDR
The Nosology is a hybrid between a list of clinically defined disorders, waiting for molecular clarification, and an annotated database documenting the phenotypic spectrum produced by mutations in a given gene.
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
TLDR
In this study, LEMD3 interacted with BMP and activin-TGFβ receptor–activated Smads and antagonized both signaling pathways in human cells and interacted with XMAN1, the Xenopus laevis ortholog, which antagonizes BMP signaling during embryogenesis.
Nosology and classification of genetic skeletal disorders: 2015 revision
TLDR
The nosology can also serve as a reference for the creation of locus‐specific databases that are expected to help in delineating genotype–phenotype correlations and to harbor the information that will be gained by combining clinical observations and next generation sequencing results.
Amelogenesis imperfecta: a classification and catalogue for the 21st century.
TLDR
This work proposes a robust mechanism for classification and cataloguing of the disorder which parallels systems used in medical genetics and argues that this system is of more benefit to individuals and families than previous classifications.
The mutational spectrum of brachydactyly type C.
TLDR
It is shown that mutant GDF5 polypeptides containing missense mutations in their active domains do not efficiently form disulfide-linked dimers when expressed in vitro, which supports the hypothesis that BDC results from functional haploinsufficiency for GDF 5.
Mutations in PYCR1 cause cutis laxa with progeroid features
TLDR
The authors' findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues, which led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis.
Nosology and classification of genetic skeletal disorders: 2019 revision
TLDR
This newest and tenth version of the Nosology comprises 461 different diseases that are classified into 42 groups based on their clinical, radiographic, and/or molecular phenotypes and remarkable, pathogenic variants affecting 437 different genes have been found in 425/461 (92%) of these disorders.
Mutations in TRPV4 cause an inherited arthropathy of hands and feet
TLDR
The data indicate that TRPV4 mutations that reduce channel activity cause a third phenotype, inherited osteoarthropathy, and show the importance of TRPv4 activity in articular cartilage homeostasis, raising the possibility that TRpV4 may also have a role in age- or injury-related osteoarthritis.
Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN
TLDR
The heterozygous and homozygous-affected Dexter cattle could prove invaluable as a model for human disorders caused by mutations in ACAN, and a one-to-one correspondence between genotype and phenotype at this locus.
...
1
2
3
4
5
...