TY  - JOUR
A1  - Stepniak, Beata
A1  - Kästner, Anne
A1  - Poggi, Giulia
A1  - Mitjans, Marina
A1  - Begemann, Martin
A1  - Hartmann, Annette
A1  - Van der Auwera, Sandra
A1  - Sananbenesi, Farahnaz
A1  - Krüger-Burg, Dilja
A1  - Matuszko, Gabriela
A1  - Brosi, Cornelia
A1  - Homuth, Georg
A1  - Völzke, Henry
A1  - Benseler, Fritz
A1  - Bagni, Claudia
A1  - Fischer, Utz
A1  - Dityatev, Alexander
A1  - Grabe, Hans-Jörgen
A1  - Rujescu, Dan
A1  - Fischer, Andre
A1  - Ehrenreich, Hannelore
T1  - Accumulated common variants in the broader fragile X gene family modulate autistic phenotypes
JF  - EMBO Molecular Medicine
N2  - Fragile X syndrome (FXS) is mostly caused by a CGG triplet expansion in the fragile X mental retardation 1 gene (FMR1). Up to 60% of affected males fulfill criteria for autism spectrum disorder (ASD), making FXS the most frequent monogenetic cause of syndromic ASD. It is unknown, however, whether normal variants (independent of mutations) in the fragile X gene family (FMR1, FXR1, FXR2) and in FMR2 modulate autistic features. Here, we report an accumulation model of 8 SNPs in these genes, associated with autistic traits in a discovery sample of male patients with schizophrenia (N = 692) and three independent replicate samples: patients with schizophrenia (N = 626), patients with other psychiatric diagnoses (N = 111) and a general population sample (N = 2005). For first mechanistic insight, we contrasted microRNA expression in peripheral blood mononuclear cells of selected extreme group subjects with high-versus low-risk constellation regarding the accumulation model. Thereby, the brain-expressed miR-181 species emerged as potential "umbrella regulator", with several seed matches across the fragile X gene family and FMR2. To conclude, normal variation in these genes contributes to the continuum of autistic phenotypes.
KW  - permutation
KW  - miR-181
KW  - PGAS
KW  - FXR2
KW  - FXR1
KW  - FMR2
KW  - FMR1
KW  - identification
KW  - protein
KW  - fraxe mental retardation
KW  - CGG repeat
KW  - CPG Island
KW  - schizophrenia
KW  - expression
KW  - males
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-136893
VL  - 7
IS  - 12
ER  - 
TY  - JOUR
A1  - Hartmann, Sylvia
A1  - Plütschow, Annette
A1  - Mottok, Anja
A1  - Bernd, Heinz‐Wolfram
A1  - Feller, Alfred C.
A1  - Ott, German
A1  - Cogliatti, Sergio
A1  - Fend, Falko
A1  - Quintanilla‐Martinez, Leticia
A1  - Stein, Harald
A1  - Klapper, Wolfram
A1  - Möller, Peter
A1  - Rosenwald, Andreas
A1  - Engert, Andreas
A1  - Hansmann, Martin‐Leo
A1  - Eichenauer, Dennis A.
T1  - The time to relapse correlates with the histopathological growth pattern in nodular lymphocyte predominant Hodgkin lymphoma
JF  - American Journal of Hematology
N2  - Nodular lymphocyte predominant Hodgkin lymphoma (NLPHL) can present with different histopathological growth patterns. The impact of these histopathological growth patterns on relapse characteristics is unknown. We therefore analyzed paired biopsies obtained at initial diagnosis and relapse from 33 NLPHL patients who had received first‐line treatment within German Hodgkin Study Group (GHSG) trial protocols, and from a second cohort of 41 relapsed NLPHL patients who had been treated outside GHSG studies. Among the 33 GHSG patients, 21 patients presented with a typical growth pattern at initial diagnosis, whereas 12 patients had a variant histology. The histopathological growth patterns at initial diagnosis and at relapse were consistent in 67% of cases. A variant histology at initial diagnosis was associated with a shorter median time to lymphoma recurrence (2.8 vs 5.2 years; P = .0219). A similar tendency towards a shorter median time to lymphoma recurrence was observed for patients presenting with a variant histology at relapse, irrespective of the growth pattern at initial diagnosis. Results obtained from the 41 NLPHL patients who had been treated outside GHSG studies were comparable (median time to lymphoma recurrence for variant histology vs typical growth pattern at initial diagnosis: 1.5 vs 7.0 years). In conclusion, the histopathological growth pattern remains consistent at relapse in the majority of NLPHL cases, and has major impact on the time of relapse.
KW  - Hodgkin lymphoma
KW  - relapse
KW  - growth patterns
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-212594
VL  - 94
IS  - 11
SP  - 1208
EP  - 1213
ER  -