ArticleAmerican journal of human genetics2011
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Gene variants associated with acne vulgaris presentation and severity: a systematic review and meta-analysis.BMC medical genomics · 2021Pooled it
- Serum proteomic signatures and an immune-calcium signaling cascade associated with antipsychotic-related erectile dysfunction in schizophrenia.Scientific reports · 2026Article
- Loss of Twist1 leads to disruption of ciliary length, endocytic vesicle dynamics, and cell-cell junctions during neural tube formation.Developmental dynamics : an official publication of the American Association of Anatomists · 2026Article
- Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.Frontiers in physiology · 2026Article
- Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.bioRxiv : the preprint server for biology · 2025Article
- Genetic interaction ofbioRxiv : the preprint server for biology · 2025Article
- Disruption of SPECC1L translation initiation by intragenic deletion: novel pathogenic mechanism in Teebi-hypertelorism syndrome.NPJ genomic medicine · 2025Article
- TWIST1 Modulates Cilia Length, Endocytic Vesicle Dynamics, and Cell-Cell Junctions during Neural Tube Morphogenesis.bioRxiv : the preprint server for biology · 2025Article
- Searching for protein partners of short-chain 3-hydroxyacyl-CoA dehydrogenase (SCHAD) reveals keratin 8 as a novel candidate for interaction in pancreatic β-cells.BMC molecular and cell biology · 2025Article
- Heritability and Genome-Wide Association Study of Dog Behavioral Phenotypes in a Commercial Breeding Cohort.Genes · 2024Article
- Changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease.Scientific reports · 2024Article
- Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.American journal of human genetics · 2024Article
- The Human Brainome: changes in expression of VGF, SPECC1L, HLA-DRA and RANBP3L act with APOE E4 to alter risk for late onset Alzheimer's disease.Research square · 2023Article
- SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.Biochemical Society transactions · 2023Article
- A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature.American journal of medical genetics. Part A · 2023Article
- TWIST1 interacts with β/δ-catenins during neural tube development and regulates fate transition in cranial neural crest cells.Development (Cambridge, England) · 2022Article
- Heat Shock Alters the Proteomic Profile of Equine Mesenchymal Stem Cells.International journal of molecular sciences · 2022Article
- A comprehensive SARS-CoV-2-human protein-protein interactome network identifies pathobiology and host-targeting therapies for COVID-19.Research square · 2022Article
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- Microparticles: biogenesis, characteristics and intervention therapy for cancers in preclinical and clinical research.Journal of nanobiotechnology · 2022Review
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Authors and funding
18 authors.
Funding
Abstract
Genetic mutations responsible for oblique facial clefts (ObFC), a unique class of facial malformations, are largely unknown. We show that loss-of-function mutations in SPECC1L are pathogenic for this human developmental disorder and that SPECC1L is a critical organizer of vertebrate facial morphogenesis. During murine embryogenesis, Specc1l is expressed in cell populations of the developing facial primordial, which proliferate and fuse to form the face. In zebrafish, knockdown of a SPECC1L homolog produces a faceless phenotype with loss of jaw and facial structures, and knockdown in Drosophila phenocopies mutants in the integrin signaling pathway that exhibit cell-migration and -adhesion defects. Furthermore, in mammalian cells, SPECC1L colocalizes with both tubulin and actin, and its deficiency results in defective actin-cytoskeleton reorganization, as well as abnormal cell adhesion and migration. Collectively, these data demonstrate that SPECC1L functions in actin-cytoskeleton reorganization and is required for proper facial morphogenesis.
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