Structure of the highly conserved HERC2 gene and of multiple partially duplicated paralogs in human (Q24614728)

1

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N A Rebert

2

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J M Joslin

3

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M J Higgins

4

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R A Schultz

5

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R D Nicholls

Characterization of the DOC1/APC10 subunit of the yeast and the human anaphase-promoting complex

6

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language of work or name

English

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publication date

March 2000

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published in

Genome Research

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volume

10

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issue

3

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page(s)

319-29

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cites work

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7 April 2017

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The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities

7 April 2017

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A map of 75 human ribosomal protein genes

7 April 2017

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p619, a giant protein related to the chromosome condensation regulator RCC1, stimulates guanine nucleotide exchange on ARF1 and Rab proteins

7 April 2017

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Organization and sequence of the human P gene and identification of a new family of transport proteins

7 April 2017

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Genome sequence of the nematode C. elegans: a platform for investigating biology

7 April 2017

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CpG-rich islands and the function of DNA methylation

7 April 2017

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The DNA sequence of human chromosome 22

7 April 2017

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Molecular characterization of radiation- and chemically induced mutations associated with neuromuscular tremors, runting, juvenile lethality, and sperm defects in jdf2 mice

7 April 2017

1 reference

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A common molecular basis for rearrangement disorders on chromosome 22q11

7 April 2017

1 reference

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Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

7 April 2017

1 reference

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Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1

7 April 2017

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The genomic record of Humankind's evolutionary roots

7 April 2017

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A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes

7 April 2017

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Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

27 September 2017

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Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

27 September 2017

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Isolation of DNA fragments associated with methylated CpG islands in human adenocarcinomas of the lung using a methylated DNA binding column and denaturing gradient gel electrophoresis

27 September 2017

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A model system to study genomic imprinting of human genes

27 September 2017

1 reference

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A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice.

27 September 2017

1 reference

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Molecular cytogenetic evidence for a common breakpoint in the largest inverted duplications of chromosome 15.

27 September 2017

1 reference

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Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

27 September 2017

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Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

27 September 2017

1 reference

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A giant protein that stimulates guanine nucleotide exchange on ARF1 and Rab proteins forms a cytosolic ternary complex with clathrin and Hsp70.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Refined molecular characterization of the breakpoints in small inv dup(15) chromosomes

27 September 2017

1 reference

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Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Structural characterization of the complete human perlecan gene and its promoter

27 September 2017

1 reference

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Clinical and molecular analysis of five inv dup(15) patients.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Intrachromosomal triplication of 15q11-q13.

27 September 2017

1 reference

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Members of a family of Drosophila putative odorant-binding proteins are expressed in different subsets of olfactory hairs.

27 September 2017

1 reference

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Expressed copies of the MN7 (D15F37) gene family map close to the common deletion breakpoints in the Prader-Willi/Angelman syndromes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Protein phosphatase 4 is an essential enzyme required for organisation of microtubules at centrosomes in Drosophila embryos

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

The organization of the gamma-glutamyl transferase genes and other low copy repeats in human chromosome 22q11.

30 May 2018

1 reference

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Defects in RNA splicing and the consequence of shortened translational reading frames

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Imprinting in Prader-Willi and Angelman syndromes.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Overview of the yeast genome.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Cloning of mouse type VII collagen reveals evolutionary conservation of functional protein domains and genomic organization.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=311424

Difference in methylation patterns within the D15S9 region of chromosome 15q11-13 in first cousins with Angelman syndrome and Prader-Willi syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10720573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Homologous DNA Exchanges in Humans Can Be Explained by the Yeast Double-Strand Break Repair Model: A Study of 17p11.2 Rearrangements Associated with CMT1A and HNPP

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10720573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10720573