25 Result(s)

Article

Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations

Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically hetero...

Chiraz Bouchlaka, Sonia Abdelhak, Ahlem Amouri, Hela Ben Abid… in Journal of Human Genetics (2003)

Article

A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem

Glycine encephalopathy (GE) (non-ketotic hyperglycinemia) is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system. Clinically, patients present usually in t...

Avihu Boneh, Stanley H. Korman, Kenichi Sato, Junko Kanno… in Journal of Human Genetics (2005)

Article

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and fee...

Cherine Charfeddine, Mourad Mokni, Selma Kassar, Hela Zribi… in Journal of Human Genetics (2006)

Article

Erratum: Fragile sites are preferential targets for integrations of MLV vectors in gene therapy

Correction to: Gene Therapy (2006) 13, 1057–1059. doi:10.1038/sj.gt.3302752 Since the above publication the authors have noticed an error in the first DNA marker of FRA11E in Supplementary Table 1S. The correc...

A C Bester, M Schwartz, M Schmidt, A Garrigue, S Hacein-Bey-Abina… in Gene Therapy (2007)

Article

Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia

Hereditary breast cancer accounts for 3–8% of all breast cancers, with mutations in the BRCA1 and BRCA2 genes responsible for up to 30% of these. To investigate the prevalence of BRCA1 and BRCA2 gene mutations...

Wafa Troudi, N. Uhrhammer, C. Sibille, C. Dahan, W. Mahfoudh… in Journal of Human Genetics (2007)

Article

Association of the serotonin transporter gene, neuroticism and smoking behaviours

Cigarette consumption and smoking cessation are influenced in part by genes. Personality traits have also been implicated in the aetiology of smoking. Neuroticism, a personality trait with a heritable componen...

Colin O’Gara, Jo Knight, John Stapleton, Jason Luty, Ben Neale… in Journal of Human Genetics (2008)

Article

Mutation spectrum of Joubert syndrome and related disorders among Arabs

Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, rec...

Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson… in Human Genome Variation (2014)

Article

Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs

Correction to: Human Genome Variation (2014) 1, 14020; doi:10.1038/hgv.2014.20; published online 6 November 2014 After online publication of this review, the authors noticed couple of errors in Table 2 in the ...

Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson… in Human Genome Variation (2015)

Article

Recurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer

Pancreatic neuroendocrine tumors (pNETs) are uncommon cancers arising from pancreatic islet cells. Here we report the analysis of gene mutation, copy number, and RNA expression of 57 sporadic well-differentiat...

Ben Lawrence, Cherie Blenkiron, Kate Parker, Peter Tsai… in npj Genomic Medicine (2018)

Article

Resistance to paclitaxel is associated with a variant of the gene BCL2 in multiple tumor types

Paclitaxel, the most commonly used form of chemotherapy, is utilized in curative protocols in different types of cancer. The response to treatment differs among patients. Biological interpretation of a mechani...

Rotem Ben-Hamo, Alona Zilberberg, Helit Cohen, Keren Bahar-Shany… in npj Precision Oncology (2019)

Article

Blood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer

Plasma genoty** identifies potentially actionable mutations at variable mutant allele frequencies, often admixed with multiple subclonal variants, highlighting the need for their clinical and functional vali...

Arielle J. Medford, Taronish D. Dubash, Dejan Juric, Laura Spring… in npj Precision Oncology (2019)

Article

Multiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment

The success of immunotherapy was overshadowed by its low response rate, and the hot or cold tumor microenvironment was reported to be responsible for it. However, due to the lack of an appropriate method, it i...

Ben Wang, Hai Mou, Mengmeng Liu, Zhujie Ran, **n Li, Jie Li… in npj Genomic Medicine (2021)

Article

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inher...

Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad… in npj Genomic Medicine (2021)

Article

Gene therapy for spinal muscular atrophy: the Qatari experience

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma^®) is a novel gene therapy m...

Hossamaldein Gaber Ali, Khalid Ibrahim, Mahmoud Fawzi Elsaid… in Gene Therapy (2021)

Article

Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain geneticall...

Zeinab Fadaie, Laura Whelan, Tamar Ben-Yosef, Adrian Dockery… in npj Genomic Medicine (2021)

Article

Nucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer

Fragmentation patterns of plasma cell-free DNA (cfDNA) are known to reflect nucleosome positions of cell types contributing to cfDNA. Based on cfDNA fragmentation patterns, the deviation in nucleosome footprin...

Adriaan Vanderstichele, Pieter Busschaert, Chiara Landolfo… in npj Genomic Medicine (2022)

Article

DNA-based copy number analysis confirms genomic evolution of PDX models

Genomic evolution of patient-derived xenografts (PDXs) may lead to their gradual divergence away of their tumors of origin. We previously reported the genomic evolution of the copy number (CN) landscapes of PD...

Anna C. H. Hoge, Michal Getz, Anat Zimmer, Minjeong Ko, Linoy Raz… in npj Precision Oncology (2022)

Article

Publisher Correction: DNA-based copy number analysis confirms genomic evolution of PDX models

Anna C. H. Hoge, Michal Getz, Anat Zimmer, Minjeong Ko, Linoy Raz… in npj Precision Oncology (2022)

Article

Induction immune-checkpoint inhibitors for resectable oncogene-mutant NSCLC: A multicenter pooled analysis

Despite limited efficacy of immunotherapy for advanced non-small-cell lung cancer (NSCLC) with driver mutations, whether neoadjuvant immunotherapy could be clinically valuable in those patients warrants furthe...

Chao Zhang, Hua-Fei Chen, Shi Yan, Lin Wu, Li-Xu Yan… in npj Precision Oncology (2022)

Article

Downregulation of KEAP1 in melanoma promotes resistance to immune checkpoint blockade

Immune checkpoint blockade (ICB) has demonstrated efficacy in patients with melanoma, but many exhibit poor responses. Using single cell RNA sequencing of melanoma patient-derived circulating tumor cells (CTCs...

Douglas B. Fox, Richard Y. Ebright, **n Hong, Hunter C. Russell… in npj Precision Oncology (2023)