ArticleAmerican journal of human genetics1991
A human gene homologous to the formin gene residing at the murine limb deformity locus: chromosomal location and RFLPs.
Article in American journal of human genetics, 1991. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
9 citing papers in PubMed, 16 citations in OpenAlex.
- Formin1 disruption confers oligodactylism and alters Bmp signaling.Human molecular genetics · 2009Article
- Mouse limb deformity mutations disrupt a global control region within the large regulatory landscape required for Gremlin expression.Genes & development · 2004Article
- Cdc42: An essential Rho-type GTPase controlling eukaryotic cell polarity.Microbiology and molecular biology reviews : MMBR · 1999Review
- cdc12p, a protein required for cytokinesis in fission yeast, is a component of the cell division ring and interacts with profilin.The Journal of cell biology · 1997Article
- Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15.Proceedings of the National Academy of Sciences of the United States of America · 1992Article
- Synthesizing embryology and human genetics: paradigms regained.American journal of human genetics · 1992Review
- The same genomic region is disrupted in two transgene-induced limb deformity alleles.Mammalian genome : official journal of the International Mammalian Genome Society · 1992Article
- New nucleotide sequence data on the EMBL File Server.Nucleic acids research · 1991Article
- Mouse chromosome 2.Mammalian genome : official journal of the International Mammalian Genome Society · 1991Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The murine limb deformity (ld) locus resides on mouse chromosome 2 and gives rise to a recessively inherited, characteristic limb deformity/renal aplasia phenotype. In this locus in the mouse, a gene, termed the "formin" gene, has been identified which encodes an array of differentially processed transcripts in both adult and embryonic tissues. A set of these transcripts are disrupted in independent mutant mouse ld alleles. We wish to report the isolation of a human genomic clone which is homologous to the mouse formin gene by virtue of sequence comparison and expression of conserved exons. Among human fetal tissues analyzed, the kidney appears to be a major site of expression. This human gene, LD, maps to chromosome 15q11----qter in mouse human somatic cell hybrids and, specifically, to 15q13----q14 by chromosomal in situ hybridization. This localization establishes both LD and beta 2-microglobulin as syntenic genes on mouse chromosome 2 and human chromosome 15 and implies the interspecies conservation of the region between them. In addition, we identify in the human locus two frequently occurring DNA polymorphisms which can be used to test the linkage of LD to known human dysmorphoses.
Indexed as
Identifiers
1673046PMC1682958W1717759845What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.