Moosa, Shahida

[["dc.bibliographiccitation.firstpage","622"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","American journal of human genetics"],["dc.bibliographiccitation.lastpage","632"],["dc.bibliographiccitation.volume","95"],["dc.contributor.author","Hussain, Muhammad Sajid"],["dc.contributor.author","Battaglia, Agatino"],["dc.contributor.author","Szczepanski, Sandra"],["dc.contributor.author","Kaygusuz, Emrah"],["dc.contributor.author","Toliat, Mohammad Reza"],["dc.contributor.author","Sakakibara, Shin-ichi"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Gudrun"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Yigit, Gökhan"],["dc.contributor.author","Beleggia, Filippo"],["dc.contributor.author","Tinschert, Sigrid"],["dc.contributor.author","Clayton-Smith, Jill"],["dc.contributor.author","Vasudevan, Pradeep"],["dc.contributor.author","Urquhart, Jill E."],["dc.contributor.author","Donnai, Dian"],["dc.contributor.author","Fryer, Alan"],["dc.contributor.author","Percin, E. Ferda"],["dc.contributor.author","Brancati, Francesco"],["dc.contributor.author","Dobbie, Angus"],["dc.contributor.author","Smigiel, Robert"],["dc.contributor.author","Gillessen-Kaesbach, Gabriele"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Noegel, Angelika Anna"],["dc.contributor.author","Newman, William G."],["dc.contributor.author","Nürnberg, Peter"],["dc.date.accessioned","2017-09-07T11:45:24Z"],["dc.date.available","2017-09-07T11:45:24Z"],["dc.date.issued","2014"],["dc.description.abstract","Filippi syndrome is a rare, presumably autosomal-recessive disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. We performed homozygosity mapping and whole-exome sequencing in a Sardinian family with two affected children and identified a homozygous frameshift mutation, c.571dupA (p.Ile191Asnfs 6), in CKAP2L, encoding the protein cytoskeleton-associated protein 2-like (CKAP2L). The function of this protein was unknown until it was rediscovered in mice as Radmis (radial fiber and mitotic spindle) and shown to play a pivotal role in cell division of neural progenitors. Sanger sequencing of CKAP2L in a further eight unrelated individuals with clinical features consistent with Filippi syndrome revealed biallelic mutations in four subjects. In contrast to wild-type lymphoblastoid cell lines (LCLs), dividing LCLs established from the individuals homozygous for the c.571dupA mutation did not show CKAP2L at the spindle poles. Furthermore, in cells from the affected individuals, we observed an increase in the number of disorganized spindle microtubules owing to multipolar configurations and defects in chromosome segregation. The observed cellular phenotypes are in keeping with data from in vitro and in vivo knockdown studies performed in human cells and mice, respectively. Our findings show that loss-of-function mutations in CKAP2L are a major cause of Filippi syndrome."],["dc.identifier.doi","10.1016/j.ajhg.2014.10.008"],["dc.identifier.gro","3142020"],["dc.identifier.isi","000344845000013"],["dc.identifier.pmid","25439729"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/3656"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: Koln Fortune; Center for Molecular Medicine Cologne"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Cell Press"],["dc.relation.eissn","1537-6605"],["dc.relation.issn","0002-9297"],["dc.title","Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.volume","170"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Fano, Virginia"],["dc.contributor.author","Obregon, Maria Gabriela"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Nishimura, Gen"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2017-09-07T11:54:27Z"],["dc.date.available","2017-09-07T11:54:27Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1002/ajmg.a.37884"],["dc.identifier.gro","3145170"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/2876"],["dc.notes.intern","Crossref Import"],["dc.notes.status","public"],["dc.publisher","Wiley-Blackwell"],["dc.relation.issn","1552-4825"],["dc.title","Cover Image, Volume 170A, Number 9, September 2016"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2436"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","2439"],["dc.bibliographiccitation.volume","170"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Fano, Virginia"],["dc.contributor.author","Obregon, Maria Gabriela"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Nishimura, Gen"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2017-09-07T11:44:40Z"],["dc.date.available","2017-09-07T11:44:40Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1002/ajmg.a.37823"],["dc.identifier.gro","3141623"],["dc.identifier.isi","000383608700031"],["dc.identifier.pmid","27354339"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/2344"],["dc.notes.intern","WoS Import 2017-03-10"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Wiley-blackwell"],["dc.relation.eissn","1552-4833"],["dc.relation.issn","1552-4825"],["dc.title","A Novel Homozygous PAM16 Mutation in a Patient with a Milder Phenotype and Longer Survival"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","517"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","Clinical Genetics"],["dc.bibliographiccitation.lastpage","519"],["dc.bibliographiccitation.volume","89"],["dc.contributor.author","Moosa, S."],["dc.contributor.author","Chung, B. H.-Y."],["dc.contributor.author","Tung, J. Y.-L."],["dc.contributor.author","Altmueller, J."],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nuernberg, P."],["dc.contributor.author","Netzer, C."],["dc.contributor.author","Nishimura, G."],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2018-11-07T10:16:36Z"],["dc.date.available","2018-11-07T10:16:36Z"],["dc.date.issued","2016"],["dc.identifier.doi","10.1111/cge.12678"],["dc.identifier.isi","000372289600020"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/41063"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1399-0004"],["dc.relation.issn","0009-9163"],["dc.title","Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.subtype","letter_note"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1295"],["dc.bibliographiccitation.issue","5"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics"],["dc.bibliographiccitation.lastpage","1301"],["dc.bibliographiccitation.volume","170"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Obregon, Maria Gabriela"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Fano, Virginia"],["dc.contributor.author","Wollnik, Bernd"],["dc.date.accessioned","2017-09-07T11:44:54Z"],["dc.date.available","2017-09-07T11:44:54Z"],["dc.date.issued","2016"],["dc.description.abstract","Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, skeletal abnormalities, and ectodermal features. To date, four genes have been shown to underlie the syndrome, namely, IFT122 (WDR10), WDR35 (IFT121), IFT43 (C14orf179), and WDR19 (IFT144). Clinical characterization of a larger cohort of patients with CED has been undertaken previously. Nevertheless, there are too few molecularly confirmed patients reported in the literature to determine precise genotype-phenotype correlations. To date, biallelic IFT122 mutations have been described in only five families. We therefore studied three unrelated Argentinian patients with typical features of CED using a 4813 next-generation sequencing (NGS) gene panel, which we call the \"Mendeliome.\" The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization. (C) 2016 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/ajmg.a.37570"],["dc.identifier.gro","3141689"],["dc.identifier.isi","000379944000029"],["dc.identifier.pmid","26792575"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/8927"],["dc.notes.intern","WoS Import 2017-03-10 / Funder: German Federal Ministry of Education and Research (BMBF) [01GM0801]"],["dc.notes.status","final"],["dc.notes.submitter","PUB_WoS_Import"],["dc.publisher","Wiley-blackwell"],["dc.relation.eissn","1552-4833"],["dc.relation.issn","1552-4825"],["dc.title","Novel IFT122 Mutations in Three Argentinian Patients with Cranioectodermal Dysplasia: Expanding the Mutational Spectrum"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.subtype","original"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1102"],["dc.bibliographiccitation.issue","4"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","1108"],["dc.bibliographiccitation.volume","173"],["dc.contributor.author","Moosa, Shahida"],["dc.contributor.author","Haagerup, Annette"],["dc.contributor.author","Gregersen, Pernille Axel"],["dc.contributor.author","Petersen, Karin Kastberg"],["dc.contributor.author","Altmüller, Janine"],["dc.contributor.author","Thiele, Holger"],["dc.contributor.author","Nürnberg, Peter"],["dc.contributor.author","Cho, Tae-Joon"],["dc.contributor.author","Kim, Ok-Hwa"],["dc.contributor.author","Nishimura, Gen"],["dc.contributor.author","Wollnik, Bernd"],["dc.contributor.author","Vogel, Ida"],["dc.date.accessioned","2018-04-23T11:49:11Z"],["dc.date.available","2018-04-23T11:49:11Z"],["dc.date.issued","2017"],["dc.description.abstract","Since the original description of the IARS2‐related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French–Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine‐tRNA synthetase which belongs to the class‐I aminoacyl‐tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p.Gly874Arg, who presented at birth with bilateral hip dislocation and short stature. At 3 months, additional dysmorphic features were noted and at 18 months her radiographic skeletal abnormalities were suggestive of an underlying spondyloepimetaphyseal dysplasia (SEMD). Retrospective analysis of the neonatal radiographs confirmed that the skeletal changes were present at birth. It was only with time that several of the other manifestations of the CAGSSS emerged, namely, cataracts, peripheral neuropathy, and hearing loss. Growth hormone deficiency has not (yet) manifested. We present her clinical features and particularly highlight her skeletal findings, which confirm the presence of a primary SEMD skeletal dysplasia in a growing list of mitochondrial‐related disorders including CAGSSS, CODAS, EVEN‐PLUS, and X‐linked SEMD‐MR syndromes."],["dc.identifier.doi","10.1002/ajmg.a.38116"],["dc.identifier.gro","3142504"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/13658"],["dc.language.iso","en"],["dc.notes.intern","lifescience updates Crossref Import"],["dc.notes.status","final"],["dc.relation.issn","1552-4825"],["dc.title","Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation inIARS2"],["dc.type","journal_article"],["dc.type.internalPublication","unknown"],["dc.type.peerReviewed","no"],["dspace.entity.type","Publication"]]