Ask about this productRelated genes to: IFT140 Blocking Peptide
- Gene:
- IFT140 NIH gene
- Name:
- intraflagellar transport 140
- Previous symbol:
- WDTC2
- Synonyms:
- gs114, KIAA0590
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-26
- Date modifiied:
- 2014-11-19
Related products to: IFT140 Blocking Peptide
Related articles to: IFT140 Blocking Peptide
- Cranioectodermal dysplasia (CED) is a rare autosomal recessive ciliopathy characterized by craniofacial, skeletal, and ectodermal anomalies. Significant phenotypic heterogeneity often results in clinical overlap with other skeletal dysplasias, including Robinow syndrome. In consanguineous populations, the presence of multiple rare variants can further complicate the molecular diagnosis. This study aimed to clarify the genetic basis of a complex syndromic presentation in a consanguineous Saudi family exhibiting features suggestive of both disorders using an integrated phenotypic, genomic, and computational approach. - Source: PubMed
Aljeaid DeemaAlmadiny AbdulrahmanNasser Khalidah KAlmutadares MahmoudIssa Noha M - - Source: PubMed
Publication date: 2026/05/05
Marechal TomHrecinuc IuliaPagniez Marie-SophieDecaestecker Antoine - Multiple morphological abnormalities of the sperm flagella (MMAF) is a major cause of male infertility, but identified gene variants can only explain about 60% of clinical cases. Here, dynein axonemal intermediate chain 4 (DNAI4) is identified as an essential regulator of sperm flagellum morphogenesis. RT-PCR and western blot analyses indicate that expression of DNAI4 is enriched in murine testes. Dnai4 deletion in mice causes male-specific infertility due to oligoasthenoteratospermia with MMAF. Electron microscopy analyses revealed that DNAI4 deficiency resulted in an abnormal ultrastructure of sperm flagella, including disorganized mitochondrial sheaths, outer dense fibers and '9+2' axonemes, and missing inner dynein arms (IDA) and outer dynein arms. The IDA component DNAH10 was remarkably reduced in testes and sperm tails of Dnai4 knockout mice. Immunoprecipitation demonstrated an interaction between DNAI4 and the intraflagellar transport protein IFT144 within the testes. Other IFT-A members, including IFT140, IFT122 and IFT121, were downregulated in sperm tails following Dnai4 deletion. Taken together, these findings establish DNAI4 as an essential regulator of sperm flagellum assembly and mammalian spermiogenesis, operating through the regulation of IDA assembly and retrograde intraflagellar transport. - Source: PubMed
Publication date: 2026/05/19
Yang FanMeng ShiqiLu WentingSu JiayiLi GuanghuaGe TingtingZhao YichunWhelan Eoin CYuan LuYang YueqiZhang FengmingCheng XuShi AnqiZhao YaFang XiaoNiu ChangminZheng Ying - Mainzer-Saldino syndrome is a rare autosomal recessive ciliopathy characterized by cone-shaped epiphyses, chronic renal failure, and early-onset severe retinal dystrophy. Blastic plasmacytoid dendritic cell neoplasm is a rare hematologic malignancy. However, the association between these two diseases is unclear, and the coincidence of the two diseases has not been previously reported. - Source: PubMed
Publication date: 2026/04/22
Hu RuolanLi JinrongYang FanJiang Mingyan - A 40-year-old female with a family history of polycystic kidney disease presented for evaluation. She was originally diagnosed with liver cysts in 2015 following an emergency department visit for suspected cyst rupture. Laboratory studies demonstrated preserved renal and hepatic function, with a creatinine level of 0.65 mg/dL and an estimated glomerular filtration rate (eGFR) of 114 mL/min/1.73 m². Abdominal MRI revealed numerous hepatic cysts, the largest measuring 12.9 × 10.8 cm, along with multiple bilateral renal cysts. The largest renal cyst measured 5.2 cm and was haemorrhagic and exophytic. Genetic testing identified heterozygous pathogenic variants in both SEC63 and IFT140. The patient is currently managed with serial imaging surveillance for hepatic cyst burden, portal hypertension, and total kidney volume. This case illustrates a rare double-hit genetic entity. While SEC63 mutations rarely involve the kidneys, the co-existence of an IFT140 variant likely contributed to the development of bilateral renal cysts. This report emphasizes the role of comprehensive genetic testing in atypical polycystic presentations and highlights the importance of multidisciplinary monitoring in complex ciliopathies. Informed consent was obtained for publication of this case report. - Source: PubMed
Publication date: 2026/03/12
Ortega-Macías Alan GGupta UditaEscobar Gil TomasMemon JawairiaGarcía Pablo R