Skip to search formSkip to main contentSkip to account menu
  • Publications
  • Influence
The genome sequence of Drosophila melanogaster.
TLDR
The nucleotide sequence of nearly all of the approximately 120-megabase euchromatic portion of the Drosophila genome is determined using a whole-genome shotgun sequencing strategy supported by extensive clone-based sequence and a high-quality bacterial artificial chromosome physical map.
View on PubMed
Mutations of the VHL tumour suppressor gene in renal carcinoma
TLDR
The identification of VHL mutations in a majority of localized and advanced sporadic renal carcinomas and in a second form of hereditary renal carcinoma indicates that the VHL gene plays a critical part in the origin of this malignancy.
View on Nature
Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.
TLDR
The present study shows that mutations in FH are associated with HLRCC in North America, and expands the histologic spectrum of renal tumors and FH mutations associated withHLRCC.
View on PubMed
BHD mutations, clinical and molecular genetic investigations of Birt–Hogg–Dubé syndrome: a new series of 50 families and a review of published reports
TLDR
BHDS is characterised by a spectrum of mutations, and clinical heterogeneity both among and within families, and the first germline missense mutation in BHD c.1978A>G (K508R) is reported.
View on BMJ
Down-regulation of transmembrane carbonic anhydrases in renal cell carcinoma cell lines by wild-type von Hippel-Lindau transgenes.
To discover genes involved in von Hippel-Lindau (VHL)-mediated carcinogenesis, we used renal cell carcinoma cell lines stably transfected with wild-type VHL-expressing transgenes. Large-scale RNA…
View on PubMed
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
TLDR
This study shows that expression of cutaneous manifestations in HLRCC ranges from absent to mild to severe cutaneous leiomyomas and the FH mutation detection rate is 93% (52/56) in families suspected of H LRCC.
View on BMJ
Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
TLDR
This study indicates that patients with BHDS have a significant association between lung cysts and spontaneous pneumothorax.
View on PubMed
Germline mutations in the von Hippel–Lindau disease tumor suppressor gene: Correlations with phenotype
TLDR
The identification of mutations associated with phenotypes contributes to the understanding of fundamental genetic mechanisms of VHL disease and is useful in presymptomatic diagnosis.
View on Wiley
Human semaphorins A(V) and IV reside in the 3p21.3 small cell lung cancer deletion region and demonstrate distinct expression patterns.
TLDR
The identified two additional members of the human semaphorin family are identified in chromosome region 3p21.3, where several small cell lung cancer (SCLC) cell lines exhibit homozygous deletions indicative of a tumor suppressor gene.
View on PubMed
Functional Properties of a New Voltage-dependent Calcium Channel α2δ Auxiliary Subunit Gene (CACNA2D2) *
TLDR
It is concluded that the α2δ-2 gene encodes a functional auxiliary subunit of voltage-gated Ca2+ channels, which needs to be explored as a potential tumor suppressor gene linking Ca2-signaling and lung, breast, and other cancer pathogenesis.
View on Publisher
...
...
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License