The structure of blocks with a Klein four defect group

We prove Erdmann’s conjecture [16] stating that every block with a Klein four defect group has a simple module with trivial source, and deduce from this that Puig’s finiteness conjecture holds for source algebras of blocks with a Klein four defect group. The proof uses the classification of finite simple groups

The Brauer complex and its applications to the Chevalley groups

This thesis, is concerned with the determination of the connected centralizers of semi-simple elements in a Chevalley group. To deal with this problem we shall use the recent work of R. Carter [6] and a new tool for the study of algebraic groups - the so called Brauer complex. This complex has been first defined by J. Humphreys [11] in the context of the modular representation theory of the finite Chevalley groups of universal type. Now, in our version, the Brauer complex can be also used for the ordinary representation theory of the finite Chevalley groups of adjoint type. For, Deligne and Lusztig in their fundamental work [9] have constructed for these groups certain families of irreducible complex representations whose degrees can be obtained if we know what subgroups of the finite Chevalley groups are the connected centralizers of semi-simple elements

Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies

Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot. Different mutations within and around the SETBP1 hotspot have varying effects on SETBP1 stability and protein levels in vitro and in in silico modeling. Substitutions in SETBP1 residue I871 result in a weak increase in protein levels and mutations affecting this residue are significantly more frequent in SGS than in leukemia. On the other hand, substitutions in residue D868 lead to the largest increase in protein levels. Individuals with germline mutations affecting D868 have enhanced cell proliferation in vitro and higher incidence of cancer compared to patients with other germline SETBP1 mutations. Our findings substantiate that, despite their overlap, somatic SETBP1 mutations driving malignancy are more disruptive to the degron than germline SETBP1 mutations causing SGS. Additionally, this suggests that the functional threshold for the development of cancer driven by the disruption of the SETBP1 degron is higher than for the alteration in prenatal development in SGS. Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype

Exploring the Simultaneous Effect of Total Ion Concentration and K:Ca:Mg Ratio of the Nutrient Solution on the Growth and Nutritional Value of Hydroponically Grown Cichorium spinosum L.

Nutrient-efficient plants and agricultural systems could tackle issues resulting from conventional agriculture. Spiny chicory (Cichorium spinosum L.), a very adaptive, wild edible vegetable, is gaining commercial interest as a functional food. Floating-raft hydroponics is a method commonly used for the commercial cultivation of leafy vegetables due to numerous advantages compared to soil cultivation. In this paper, the simultaneous effects of different potassium, calcium and magnesium ratios and different electrical conductivity (EC) levels on the growth and mineral composition of hydroponically grown C. spinosum were investigated. Four nutrient solutions (NS) were compared, two NS with low EC (L, 2.4 dS/m) and two with high EC (H, 3.6 dS/m) with K:Ca:Mg ratios of either 50:40:10 or 40:50:10. The results showed no interactions between the two factors. No significant effects were observed on the fresh and dry weight, leaf number and leaf area. High EC levels increased the K content and decreased the Mn and Zn content in the leaf tissues. The 40:50:10 ratio led to increased Ca content in plant tissues. The Nitrate-N was only affected by the EC level and was increased under H conditions, whereas the total-N was not affected

Additive Polynomials for Finite Groups of Lie Type

This paper provides a realization of all classical and most exceptional finite groups of Lie type as Galois groups over function fields over F_q and derives explicit additive polynomials for the extensions. Our unified approach is based on results of Matzat which give bounds for Galois groups of Frobenius modules and uses the structure and representation theory of the corresponding connected linear algebraic groups.Comment: 59 pages; v2: added reference, slightly restructured section 6.1, few small rewordings; v3: completed realization of Steinberg's triality groups (thanks to P. Mueller for solving the remaining open question); clarified argument how to use Thm. 3.

A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders

De novo tbr1 mutations in sporadic autism disrupt protein functions

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