Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.

Nature genetics - 1 Feb 2008

Kagami Masayo, Sekita Yoichi, Nishimura Gen, Irie Masahito, Kato Fumiko, Okada Michiyo, Yamamori Shunji, Kishimoto Hiroshi, Nakayama Masahiro, Tanaka Yukichi, Matsuoka Kentarou, Takahashi Tsutomu, Noguchi Mika, Tanaka Yoko, Masumoto Kouji, Utsunomiya Takeshi, Kouzan Hiroko, Komatsu Yumiko, Ohashi Hirofumi, Kurosawa Kenji, Kosaki Kenjirou, Ferguson-Smith Anne C, Ishino Fumitoshi, Ogata Tsutomu

Abstract excerpt

Human chromosome 14q32.2 carries a cluster of imprinted genes including paternally expressed genes (PEGs) such as DLK1 and RTL1 and maternally expressed genes (MEGs) such as MEG3 (also known as GTL2), RTL1as (RTL1 antisense) and MEG8 (refs. 1,2), together with the intergenic differentially methyl...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Chromosome Breakage
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Intergenic

Share to Fathers

Share to Mothers

Share to Physical Chromosome Mapping

Share to RNA, Long Noncoding

Share to Uniparental Disomy

Source

Identifiers

PMID: 18176563
DOI: 10.1038/ng.2007.56

Genes

DLK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18176563-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.PMID 18176563Read ↗

Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation.Semantic proximity Read ↗

Molecular mechanisms regulating phenotypic outcome in paternal and maternal uniparental disomy for chromosome 14.Semantic proximity Read ↗

Clinical features of maternal uniparental disomy 14 in patients with an epimutation and a deletion of the imprinted DLK1/GTL2 gene cluster.Semantic proximity Read ↗

Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype.Semantic proximity Read ↗

The IG-DMR and the MEG3-DMR at Human Chromosome 14q32.2: Hierarchical Interaction and Distinct Functional Properties as Imprinting Control CentersSemantic proximity Read ↗

Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14.Semantic proximity Read ↗

Novel deletions affecting the MEG3-DMR provide further evidence for a hierarchical regulation of imprinting in 14q32Semantic proximity Read ↗

Epimutation at human chromosome 14q32.2 in a boy with a upd(14)mat-like clinical phenotype.Semantic proximity Read ↗

Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.Semantic proximity Read ↗

Epigenetic detection of human chromosome 14 uniparental disomySemantic proximity Read ↗

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.Semantic proximity Read ↗

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.