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

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.

Molecular genetics & genomic medicine - 1 Mar 2018

Ren Yu, Diao Feiyang, Katari Sunita, Yatsenko Svetlana, Jiang Huaiyang, Wood-Trageser Michelle A, Rajkovic Aleksandar

Abstract excerpt

BACKGROUND: Hypergonadotropic hypogonadism (HH) is a genetically heterogeneous disorder that usually presents with amenorrhea, atrophic ovaries, and low estrogen. Most cases of HH are idiopathic and nonsyndromic. Nucleoporin 107 (NUP107), a protein involved in transport between cytoplasm and nucleus with putative roles in meiosis/mitosis progression, was recently implicated as a cause of HH. We identified a...

Read the complete abstract on PubMed

Topics

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

Share to Amenorrhea
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Hypogonadism

Share to Menopause, Premature

Share to Mutation, Missense

Share to Nuclear Pore Complex Proteins

Share to Primary Ovarian Insufficiency

Source

Open in PubMed Open full text

Identifiers

PMID: 29363275
DOI: 10.1002/mgg3.345
PMCID: PMC5902394

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional study of a novel missense single-nucleotide variant of NUP107 in two daughters of Mexican origin with premature ovarian insufficiency.PMID 29363275Read ↗

Nucleoporin107 mediates female sexual differentiation via DsxSemantic proximity Read ↗

A de novo C-terminal truncation mutation in NUP205 as a key factor in premature ovarian insufficiency.Semantic proximity Read ↗

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.Semantic proximity Read ↗

Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.Semantic proximity Read ↗

Familial primary ovarian insufficiency associated with an SYCE1 point mutation: defective meiosis elucidated in humanized mice.Semantic proximity Read ↗

Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.Semantic proximity Read ↗

Mutations in MSH5 in primary ovarian insufficiencySemantic proximity Read ↗

Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos.Semantic proximity Read ↗

A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.Semantic proximity Read ↗

Familial primary ovarian insufficiency associated with a <i>SYCE1</i> point mutation: Defective meiosis elucidated in humanized miceSemantic proximity Read ↗

From the sideline: Tissue-specific nucleoporin function in health and disease, an update.Semantic proximity Read ↗

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian InsufficiencySemantic proximity Read ↗

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