Literature DB >> 28288023

The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.

Allan Bayat1, Bronwyn Kerr, Sofia Douzgou.   

Abstract

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Year:  2017        PMID： 28288023     DOI： 10.1097/MCD.0000000000000169

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  9 in total

1.  Intraflagellar transporter protein 140 (IFT140), a component of IFT-A complex, is essential for male fertility and spermiogenesis in mice.

Authors:  Yong Zhang; Hong Liu; Wei Li; Zhengang Zhang; Shiyang Zhang; Maria E Teves; Courtney Stevens; James A Foster; Gregory E Campbell; Jolene J Windle; Rex A Hess; Gregory J Pazour; Zhibing Zhang
Journal:  Cytoskeleton (Hoboken)       Date:  2018-01-08

2.  Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype.

Authors:  Sarah R Senum; Ying Sabrina M Li; Katherine A Benson; Giancarlo Joli; Eric Olinger; Sravanthi Lavu; Charles D Madsen; Adriana V Gregory; Ruxandra Neatu; Timothy L Kline; Marie-Pierre Audrézet; Patricia Outeda; Cherie B Nau; Esther Meijer; Hamad Ali; Theodore I Steinman; Michal Mrug; Paul J Phelan; Terry J Watnick; Dorien J M Peters; Albert C M Ong; Peter J Conlon; Ronald D Perrone; Emilie Cornec-Le Gall; Marie C Hogan; Vicente E Torres; John A Sayer; Peter C Harris
Journal:  Am J Hum Genet       Date:  2021-12-09       Impact factor: 11.043

3.  Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Authors:  Joanna Walczak-Sztulpa; Renata Posmyk; Ewelina M Bukowska-Olech; Anna Wawrocka; Aleksander Jamsheer; Machteld M Oud; Miriam Schmidts; Heleen H Arts; Anna Latos-Bielenska; Anna Wasilewska
Journal:  Orphanet J Rare Dis       Date:  2020-02-01       Impact factor: 4.123

4.  A novel combination of biallelic IFT122 variants associated with cranioectodermal dysplasia: A case report.

Authors:  Qi Yang; Qiang Zhang; Fei Chen; Shang Yi; Mengting Li; Sheng Yi; Xingmin Xu; Jingsi Luo
Journal:  Exp Ther Med       Date:  2021-02-01       Impact factor: 2.447

5.  Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).

Authors:  Joanna Ryżko; Joanna Walczak-Sztulpa; Piotr Czubkowski; Anna Latos-Bieleńska; Adam Kowalski; Marek Stefanowicz; Wioletta Jarmużek; Ryszard Grenda; Joanna Pawłowska
Journal:  Front Pediatr       Date:  2022-02-25       Impact factor: 3.418

6.  Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Authors:  Joanna Walczak-Sztulpa; Anna Wawrocka; Cenna Doornbos; Ronald van Beek; Anna Sowińska-Seidler; Aleksander Jamsheer; Ewelina Bukowska-Olech; Anna Latos-Bieleńska; Ryszard Grenda; Ernie M H F Bongers; Miriam Schmidts; Ewa Obersztyn; Maciej R Krawczyński; Machteld M Oud
Journal:  Front Genet       Date:  2022-07-07       Impact factor: 4.772

7.  IFT140+/K14+ cells function as stem/progenitor cells in salivary glands.

Authors:  Xueming Zhang; Ji Zhou; Xinyu Wang; Jiangyu Geng; Yubei Chen; Yao Sun
Journal:  Int J Oral Sci       Date:  2022-10-10       Impact factor: 24.897

8.  Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.

Authors:  Benjamin M Helm; Jason R Willer; Azita Sadeghpour; Christelle Golzio; Eric Crouch; Samantha Schrier Vergano; Nicholas Katsanis; Erica E Davis
Journal:  Hum Genomics       Date:  2017-07-19       Impact factor: 4.639

Review 9.  Ciliary Signalling and Mechanotransduction in the Pathophysiology of Craniosynostosis.

Authors:  Federica Tiberio; Ornella Parolini; Wanda Lattanzi
Journal:  Genes (Basel)       Date:  2021-07-14       Impact factor: 4.096
  9 in total

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