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The effect of Dnaaf5 gene dosage on primary ciliary dyskinesia phenotypes.
Horani A, Gupta DK, Xu J, Xu H, Carmen Puga-Molina LD, Santi CM, Ramagiri S, Brennan SK, Pan J, Koenitzer JR, Huang T, Hyland RM, Gunsten SP, Tzeng SC, Strahle JM, Mill P, Mahjoub MR, Dutcher SK, Brody SL. Horani A, et al. Among authors: mahjoub mr. JCI Insight. 2023 Jun 8;8(11):e168836. doi: 10.1172/jci.insight.168836. JCI Insight. 2023. PMID: 37104040 Free PMC article.
DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2.
Rezi CK, Aslanyan MG, Diwan GD, Cheng T, Chamlali M, Junger K, Anvarian Z, Lorentzen E, Pauly KB, Afshar-Bahadori Y, Fernandes EFA, Qian F, Tosi S, Christensen ST, Pedersen SF, Strømgaard K, Russell RB, Miner JH, Mahjoub MR, Boldt K, Roepman R, Pedersen LB. Rezi CK, et al. Among authors: mahjoub mr. bioRxiv [Preprint]. 2024 Mar 14:2023.11.10.566524. doi: 10.1101/2023.11.10.566524. bioRxiv. 2024. PMID: 37987012 Free PMC article. Preprint.
Loss of an extensive ciliary connectome induces proteostasis and cell fate switching in a severe motile ciliopathy.
Brody SL, Pan J, Huang T, Xu J, Xu H, Koenitizer J, Brennan SK, Nanjundappa R, Saba TG, Berical A, Hawkins FJ, Wang X, Zhang R, Mahjoub MR, Horani A, Dutcher SK. Brody SL, et al. Among authors: mahjoub mr. bioRxiv [Preprint]. 2024 Mar 21:2024.03.20.585965. doi: 10.1101/2024.03.20.585965. bioRxiv. 2024. PMID: 38562900 Free PMC article. Preprint.
Regulation of cilia abundance in multiciliated cells.
Nanjundappa R, Kong D, Shim K, Stearns T, Brody SL, Loncarek J, Mahjoub MR. Nanjundappa R, et al. Among authors: mahjoub mr. Elife. 2019 Apr 26;8:e44039. doi: 10.7554/eLife.44039. Elife. 2019. PMID: 31025935 Free PMC article.
Functional characterization of biallelic RTTN variants identified in an infant with microcephaly, simplified gyral pattern, pontocerebellar hypoplasia, and seizures.
Wambach JA, Wegner DJ, Yang P, Shinawi M, Baldridge D, Betleja E, Shimony JS, Spencer D, Hackett BP, Andrews MV, Ferkol T, Dutcher SK, Mahjoub MR, Cole FS. Wambach JA, et al. Among authors: mahjoub mr. Pediatr Res. 2018 Sep;84(3):435-441. doi: 10.1038/s41390-018-0083-z. Epub 2018 Jun 4. Pediatr Res. 2018. PMID: 29967526 Free PMC article.
39 results