| Basan syndrome in a family from South India: a novel SMARCAD1 variant. | Basan syndrome in a family from South India: a novel SMARCAD1 variant.
Mathews I, Wagh S, Baby A, Chandrashekar L, Dalal A. | 03/25/2024 |
| The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse. | The Conserved Chromatin Remodeler SMARCAD1 Interacts with TFIIIC and Architectural Proteins in Human and Mouse.
Sachs P, Bergmaier P, Treutwein K, Mermoud JE., Free PMC Article | 10/6/2023 |
| MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1. | MSH2-MSH3 promotes DNA end resection during homologous recombination and blocks polymerase theta-mediated end-joining through interaction with SMARCAD1 and EXO1.
Oh JM, Kang Y, Park J, Sung Y, Kim D, Seo Y, Lee EA, Ra JS, Amarsanaa E, Park YU, Lee SY, Hwang JM, Kim H, Schärer O, Cho SW, Lee C, Takata KI, Lee JY, Myung K., Free PMC Article | 06/29/2023 |
| Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1. | Huriez syndrome caused by a large deletion that abrogates the skin-specific isoform of SMARCAD1.
Loh AYT, Ho CM, Muthiah S, Venkatesh B, Zwolinski S, Bray APJJ, Reversade B, Rajan N, Carney TJ. | 07/24/2021 |
| SMARCAD1-mediated recruitment of the DNA mismatch repair protein MutLalpha to MutSalpha on damaged chromatin induces apoptosis in human cells. | SMARCAD1-mediated recruitment of the DNA mismatch repair protein MutLα to MutSα on damaged chromatin induces apoptosis in human cells.
Takeishi Y, Fujikane R, Rikitake M, Obayashi Y, Sekiguchi M, Hidaka M., Free PMC Article | 09/5/2020 |
| A structural model of the KAP1 RBCC domain-SMARCAD1 CUE1 domain complex is presented. SMARCAD1 CUE1 has higher affinity for KAP1 RBCC than monoubiquitin. CUE1 binds an exposed coiled-coil surface on KAP1, not a domain resembling ubiquitin. | A Ubiquitin-Binding Domain that Binds a Structural Fold Distinct from that of Ubiquitin.
Lim M, Newman JA, Williams HL, Masino L, Aitkenhead H, Gravard AE, Gileadi O, Svejstrup JQ., Free PMC Article | 05/9/2020 |
| Whole-genome sequencing on DNA from affected individuals with Huriez syndrome from three families revealed three not previously reported SNPs in SMARCAD1 gene. Western blot experiments confirmed the reduced expression of Smarcad1 protein in keratinocytes and fibroblasts from patients compared with healthy controls. Study concluded that haploinsufficiency for the skin-specific SMARCAD1 isoform accounts for Huriez syndrome. | SMARCAD1 Haploinsufficiency Underlies Huriez Syndrome and Associated Skin Cancer Susceptibility.
Günther C, Lee-Kirsch MA, Eckhard J, Matanovic A, Kerscher T, Rüschendorf F, Klein B, Berndt N, Zimmermann N, Flachmeier C, Thuß T, Lucas N, Marenholz I, Esparza-Gordillo J, Hübner N, Traupe H, Delaporte E, Lee YA. | 05/25/2019 |
| Data suggest that retention of SMARCAD1 in nucleus is dependent on interaction of CUE1 domain of SMARCAD1 with RBCC domain of KAP1; these studies were conducted with recombinant proteins expressed in mouse embryonic stem cell line and human somatic cell line. (SMARCAD1 = ATP-dependent helicase-1; KAP1 = KRAB-interacting protein-1) | The CUE1 domain of the SNF2-like chromatin remodeler SMARCAD1 mediates its association with KRAB-associated protein 1 (KAP1) and KAP1 target genes.
Ding D, Bergmaier P, Sachs P, Klangwart M, Rückert T, Bartels N, Demmers J, Dekker M, Poot RA, Mermoud JE., Free PMC Article | 12/22/2018 |
| SMARCAD1 knockdown resulted in a significant decrease in breast cancer cell proliferation and colony formation, leading to the significant inhibition of tumour growth in both the chick embryo and nude mouse xenograft models. This inhibition was due, at least in part, to a decrease in IKKbeta expression. | SMARCAD1 in Breast Cancer Progression.
Arafat K, Al Kubaisy E, Sulaiman S, Karam SM, Al Natour Z, Hassan AH, Attoub S. | 11/3/2018 |
| identifies Smarcad1/Fun30 as an accessory factor for the mismatch repair reaction | Nucleosomes around a mismatched base pair are excluded via an Msh2-dependent reaction with the aid of SNF2 family ATPase Smarcad1.
Terui R, Nagao K, Kawasoe Y, Taki K, Higashi TL, Tanaka S, Nakagawa T, Obuse C, Masukata H, Takahashi TS., Free PMC Article | 08/11/2018 |
| A splice variant (c.378+1G>T) in the SMARCAD1 gene co-segregated with Basan syndrome in a large Chinese family. | Genome-wide linkage analysis and whole-genome sequencing identify a recurrent SMARCAD1 variant in a unique Chinese family with Basan syndrome.
Li M, Wang J, Li Z, Zhang J, Ni C, Cheng R, Yao Z., Free PMC Article | 07/29/2017 |
| These results indicate that SMARCAD1 is involved in breast cancer metastasis | SMARCAD1 knockdown uncovers its role in breast cancer cell migration, invasion, and metastasis.
Al Kubaisy E, Arafat K, De Wever O, Hassan AH, Attoub S. | 06/10/2017 |
| BRCA1-BARD1 ligase activity and subsequent SMARCAD1-dependent chromatin remodeling are critical regulators of DNA repair in cancer cells. | Human BRCA1-BARD1 ubiquitin ligase activity counteracts chromatin barriers to DNA resection.
Densham RM, Garvin AJ, Stone HR, Strachan J, Baldock RA, Daza-Martin M, Fletcher A, Blair-Reid S, Beesley J, Johal B, Pearl LH, Neely R, Keep NH, Watts FZ, Morris JR., Free PMC Article | 06/10/2017 |
| These data indicate a pivotal role for the SMARCAD1-skin specific isoform in dermatoglyph formation, ADG and epidermal differientation gene expression | Mutations in SMARCAD1 cause autosomal dominant adermatoglyphia and perturb the expression of epidermal differentiation-associated genes.
Nousbeck J, Sarig O, Magal L, Warshauer E, Burger B, Itin P, Sprecher E. | 08/22/2015 |
| findings unveil an evolutionarily conserved role for the Fun30 and SMARCAD1 chromatin remodellers in controlling end resection, homologous recombination and genome stability in the context of chromatin | The yeast Fun30 and human SMARCAD1 chromatin remodellers promote DNA end resection.
Costelloe T, Louge R, Tomimatsu N, Mukherjee B, Martini E, Khadaroo B, Dubois K, Wiegant WW, Thierry A, Burma S, van Attikum H, Llorente B., Free PMC Article | 11/17/2012 |
| The existence of a short isoform of SMARCAD1 exclusively expressed in the skin, is demonstrated. | A mutation in a skin-specific isoform of SMARCAD1 causes autosomal-dominant adermatoglyphia.
Nousbeck J, Burger B, Fuchs-Telem D, Pavlovsky M, Fenig S, Sarig O, Itin P, Sprecher E., Free PMC Article | 10/15/2011 |
| Findings suggest that chromatin remodeling by SMARCAD1 ensures that silenced loci, such as pericentric heterochromatin, are correctly perpetuated. | Maintenance of silent chromatin through replication requires SWI/SNF-like chromatin remodeler SMARCAD1.
Rowbotham SP, Barki L, Neves-Costa A, Santos F, Dean W, Hawkes N, Choudhary P, Will WR, Webster J, Oxley D, Green CM, Varga-Weisz P, Mermoud JE. | 08/6/2011 |
| Results suggest a novel model for gene regulation via the SMARCAD1/KIAA1122 protein complex. | The novel protein complex with SMARCAD1/KIAA1122 binds to the vicinity of TSS.
Okazaki N, Ikeda S, Ohara R, Shimada K, Yanagawa T, Nagase T, Ohara O, Koga H. | 01/21/2010 |