| Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type. | Defective monocyte plasticity and altered cAMP pathway characterize USB1-mutated poikiloderma with neutropenia Clericuzio type.
Parajuli P, Craig DB, Gadgeel M, Bagla S, Wright RE 3rd, Chu R, Shanti CM, Thirunagari R, Grover SK, Ravindranath Y. | 02/8/2024 |
| Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations. | Chinese nontwin sisters suffer from poikiloderma with neutropenia harboring novel compound heterozygous USB1 gene mutations.
Yan C, Zhou T, Geng S. | 09/25/2023 |
| USB1 is a miRNA deadenylase that regulates hematopoietic development. | USB1 is a miRNA deadenylase that regulates hematopoietic development.
Jeong HC, Shukla S, Fok WC, Huynh TN, Batista LFZ, Parker R., Free PMC Article | 04/4/2023 |
| Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation. | Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.
Vahidnezhad H, Youssefian L, Saeidian AH, Boyden LM, Touati A, Harvey N, Naji M, Zabihi M, Barzegar M, Sotoudeh S, Liu L, Guy A, Kariminejad A, Zeinali S, Choate KA, McGrath JA, Uitto J. | 01/22/2022 |
| Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia. | Clinical Sequencing Solves a Diagnostic Dilemma by Identifying a Novel Pathogenic Variant in USB1 Gene Causing Poikiloderma with Neutropenia.
Gangadharan H, Singh K, Phadke S, Aggarwal A. | 07/10/2021 |
| Clericuzio-type poikiloderma with neutropenia in a patient from India. | Clericuzio-type poikiloderma with neutropenia in a patient from India.
Bishnoi A, Jamwal M, Das R, Scaria V, Vishwajeet V, De D, Saikia UN, Mahajan R. | 07/3/2021 |
| Here we investigate the molecular basis for the evolution of Usb1 CPDase activity. We examine the structure and function of Usb1 from Kluyveromyces marxianus, which shares 25 and 19% sequence identity to the S. cerevisiae and Homo sapiens orthologs of Usb1, respectively | Structural basis for the evolution of cyclic phosphodiesterase activity in the U6 snRNA exoribonuclease Usb1.
Nomura Y, Montemayor EJ, Virta JM, Hayes SM, Butcher SE., Free PMC Article | 03/21/2020 |
| Data show that U6 snRNA phosphodiesterase (Usb1) removes 3' adenosines with 20-fold greater efficiency than uridines. | Structural and mechanistic basis for preferential deadenylation of U6 snRNA by Usb1.
Nomura Y, Roston D, Montemayor EJ, Cui Q, Butcher SE., Free PMC Article | 07/6/2019 |
| A novel homozygous deletion of a 1-bp (c.161delC, p.P54RfsX60) in the C16orf57gene, was presumed to be causative of poikiloderma with neutropenia. The patient's asymptomatic consanguineous parents were heterozygotes for this mutation. | Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.
Sakka R, Mahjoub B, Kerkeni E, Werdani A, Boussoffara R, Ben Cheikh H, M'rad R, Sfar MT. | 05/25/2019 |
| this paper describes USB1 mutations characterized in four Moroccan patients out of three unrelated consanguinous families | Poikiloderma with Neutropenia in Morocco: a Report of Four Cases.
Aglaguel A, Abdelghaffar H, Ailal F, Habti N, Hesse S, Kohistani N, Klein C, Bousfiha AA. | 02/17/2018 |
| Data indicate the enzymatic activities and structures of yeast and human U6 RNA processing enzyme Usb1. | Usb1 controls U6 snRNP assembly through evolutionarily divergent cyclic phosphodiesterase activities.
Didychuk AL, Montemayor EJ, Carrocci TJ, DeLaitsch AT, Lucarelli SE, Westler WM, Brow DA, Hoskins AA, Butcher SE., Free PMC Article | 12/30/2017 |
| marked overlap of dyskeratosis congenita with four other genetic syndromes, confounding accurate diagnosis and subsequent management. Patients with clinical features of dyskeratosis congenita need to have genetic analysis of USB1, LIG4 and GRHL2 in addition to the classical dyskeratosis congenita genes and telomere length measurements. | Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne AJ, Collopy L, Cardoso S, Ellison A, Plagnol V, Albayrak C, Albayrak D, Kilic SS, Patıroglu T, Akar H, Godfrey K, Carter T, Marafie M, Vora A, Sundin M, Vulliamy T, Tummala H, Dokal I., Free PMC Article | 06/24/2017 |
| USB1 genes from myelodysplastic and myelodysplastic/myeloproliferative neoplasms and AML had 3 unreported variants, 2 in USB1 5'UTR (c.-83G>T and c.-66A>G), 1 in IVS3 (c.450-68dupT) and 1 (<1%) in IVS4 (c.587+21A>G/rs200924980) were detected. | Expanding the role of the splicing USB1 gene from Poikiloderma with Neutropenia to acquired myeloid neoplasms.
Negri G, Crescenzi B, Colombo EA, Fontana L, Barba G, Arcioni F, Gervasini C, Mecucci C, Larizza L. | 05/7/2016 |
| the link between Mpn1 and snRNA stability | Human Mpn1 promotes post-transcriptional processing and stability of U6atac.
Shchepachev V, Wischnewski H, Soneson C, Arnold AW, Azzalin CM. | 10/31/2015 |
| Mpn1 associates with the NineTeen Complex, a multiprotein complex that is essential for the maintenance of spliceosome integrity and efficient splicing. [Review] | The Mpn1 RNA exonuclease: cellular functions and implication in disease.
Shchepachev V, Azzalin CM. | 08/10/2013 |
| Data indicate that USB1 measures the appropriate length of the U6 oligo(U) tail by reading the position of a key adenine nucleotide (A102) and pausing 5 uridine residues downstream. | Aberrant 3' oligoadenylation of spliceosomal U6 small nuclear RNA in poikiloderma with neutropenia.
Hilcenko C, Simpson PJ, Finch AJ, Bowler FR, Churcher MJ, Jin L, Packman LC, Shlien A, Campbell P, Kirwan M, Dokal I, Warren AJ. | 04/6/2013 |
| Recombinant hMpn1 is a 3'-to-5' RNA exonuclease that removes uridines from U6 3' ends, generating terminal 2',3' cyclic phosphates in vitro. | Mpn1, mutated in poikiloderma with neutropenia protein 1, is a conserved 3'-to-5' RNA exonuclease processing U6 small nuclear RNA.
Shchepachev V, Wischnewski H, Missiaglia E, Soneson C, Azzalin CM. | 03/30/2013 |
| characterization of 6 Poikiloderma with Neutropenia patients and mutational repertoire of the gene; detected 2 novel C16orf57 mutations, c.232C>T and c.265 2T>G and the reported c.179delC, c.531delA and c.693 1G>T mutations; bioinformatic prediction of the C16orf57 protein structure denotes a very basic enzymatic function consistent with a housekeeping function | Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations.
Colombo EA, Bazan JF, Negri G, Gervasini C, Elcioglu NH, Yucelten D, Altunay I, Cetincelik U, Teti A, Del Fattore A, Luciani M, Sullivan SK, Yan AC, Volpi L, Larizza L., Free PMC Article | 11/24/2012 |
| We report three cases of poikiloderma with neutropenia whose clinical presentations, laboratory investigations, and C16orf57 mutation support the diagnosis. | Poikiloderma with neutropenia: report of three cases including one with calcinosis cutis.
Chantorn R, Shwayder T. | 11/24/2012 |
| Advanced bioinformatics predicted that C16orf57 encodes a phosphodiesterase whose putative catalytic activity is essential for its function in vivo | C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3' end modification.
Mroczek S, Krwawicz J, Kutner J, Lazniewski M, Kuciński I, Ginalski K, Dziembowski A., Free PMC Article | 11/17/2012 |
| Mutations of the C16orf57 gene permit the unification of a distinct group of genetic polikilodermal dermatoses that can be diagnosed as congenital dyskeratosis, Rothmund-Thomson syndrome, poikiloderma-neutropenia. | [Mutations of C16orf57 gene have been identified in the poikiloderma-neutropenia syndrome and in a specific subset of congenital dyskeratosis with normal-length telomeres].
Dereure O. | 09/3/2011 |
| Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia. | Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.
Clericuzio C, Harutyunyan K, Jin W, Erickson RP, Irvine AD, McLean WH, Wen Y, Bagatell R, Griffin TA, Shwayder TA, Plon SE, Wang LL., Free PMC Article | 05/21/2011 |
| findings suggest that mutations in C16orf57 unify a distinct set of families which clinically can be categorized as DC, PN or RTS. | Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.
Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I., Free PMC Article | 02/26/2011 |
| report on detailed clinical features of three siblings affected with Clericuzio poikiloderma with neutropenia syndrome, all carrying the same homozygous c.504-2A>Cmutation at the acceptor splice site of intron 4 of C16orf57 gene | Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype.
Concolino D, Roversi G, Muzzi GL, Sestito S, Colombo EA, Volpi L, Larizza L, Strisciuglio P. | 01/15/2011 |
| c16orf57 has a role in clericuzio-type poikiloderma with neutropenia | Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.
Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, Calabria A, Mencarelli MA, Fimiani M, Macciardi F, Pfundt R, Schoenmakers EF, Larizza L., Free PMC Article | 03/1/2010 |