ArticleHuman genetics2018
Genetic and functional analysis of SHROOM1-4 in a Chinese neural tube defect cohort.
Article in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 25 citations in OpenAlex.
- hiPSC-derived Organoids and Organ-on-chip Systems: New Frontiers in Neural Tube Defect Research.Stem cell reviews and reports · 2026Review
- Identifying SHROOM4 as a novel X-linked susceptibility gene for cerebral palsy in Chinese males.BMC pediatrics · 2026Article
- Effectiveness of Multivitamins vs Folic Acid on Prevention of Neural Tube Defects in Mouse Genetic Models and Human Organoids.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Decoding structural birth defects through genomic landscapes: Innovative frameworks for diagnosis (Review).International journal of molecular medicine · 2026Review
- CommonGenome research · 2025Article
- Pathogenic variants in SHROOM3 associated with hemifacial microsomia.Journal of human genetics · 2025Article
- Claudin-11, a hypomyelinating leukodystrophy 22 (HLD22)-responsible protein, uniquely interacts with shroom-2 to change cell phenotypes.BBA advances · 2025Article
- The Critical Role of the Shroom Family Proteins in Morphogenesis, Organogenesis and Disease.Phenomics (Cham, Switzerland) · 2024Review
- Identification and functional analysis of rare HECTD1 missense variants in human neural tube defects.Human genetics · 2024Article
- Identification and Functional Analysis of Rare HECTD1 Missense Variants in Human Neural Tube Defects.Research square · 2024Article
- Whole-exome sequencing study of hypospadias.iScience · 2023Article
- Assays for Apical Constriction Using the Xenopus Model.Methods in molecular biology (Clifton, N.J.) · 2022Article
- A modifier screen identifies regulators of cytoskeletal architecture as mediators of Shroom-dependent changes in tissue morphology.Biology open · 2021Article
- Identification of the Key Regulators of Spina Bifida Through Graph-Theoretical Approach.Frontiers in genetics · 2021Article
- Dysregulated expression of androgen metabolism genes and genetic analysis in hypospadias.Molecular genetics & genomic medicine · 2020Article
- Variants identified in PTK7 associated with neural tube defects.Molecular genetics & genomic medicine · 2019Article
- SHROOM2 inhibits tumor metastasis through RhoA-ROCK pathway-dependent and -independent mechanisms in nasopharyngeal carcinoma.Cell death & disease · 2019Article
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Authors and funding
4 authors at 1 institution in 2 countries.
Funding
Abstract
Neural tube defects (NTDs), which include spina bifida and anencephaly, are the second most common form of human structural congenital malformations. While it is well established that SHROOM3 plays a pivotal role in the complex morphogenetic processes involved in neural tube closure (NTC), the underlying genetic contributions of SHROOM gene family members in the etiology of human NTDs remain poorly understood. Herein, we systematically investigated the mutation patterns of SHROOM1-4 in a Chinese population composed of 343 NTD cases and 206 controls, using targeted next-generation sequencing. Functional variants were further confirmed by western blot and the mammalian two-hybrid assays. Loss of function (LoF) variants were identified in SHROOM3. We observed 1.56 times as many rare [minor allele frequency (MAF) < 0.01] coding variants (p = 2.9 × 10
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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.