Genetic analysis of two Iranian patients affected with cystinosis identified a novel CTNS mutation: case report

Two Iranian patients presented in this study was suffering from cystinosis diagnosed based on their clinical symptoms and laboratory tests. The variations c.257_258delCT and c.323delA in the CTNS gene found in them are frameshifts and truncating mutations that affect product function and result in the signs and symptoms of cystinosis.

Algorithms and Lower Bounds for De Morgan Formulas of Low-Communication Leaf Gates

The class FORMULA[s]∘G consists of Boolean functions computable by size- s De Morgan formulas whose leaves are any Boolean functions from a class G. We give lower bounds and (SAT, Learning, and pseudorandom generators ( PRG s )) algorithms for FORMULA[n 1.99 ]∘G, for classes G of functions with low communication complexity . Let R (k) G be the maximum k -party number-on-forehead randomized communication complexity of a function in G. Among other results, we show the following: • The Generalized Inner Product function GIP k n cannot be computed in FORMULA[s]° G on more than 1/2+ε fraction of inputs for s=o(n 2 /k⋅4 k ⋅R (k) (G)⋅log⁡(n/ε)⋅log⁡(1/ε)) 2 ). This significantly extends the lower bounds against bipartite formulas obtained by [62]. As a corollary, we get an average-case lower bound for GIP k n against FORMULA[n 1.99 ]∘PTF k −1 , i.e., sub-quadratic-size De Morgan formulas with degree-k-1) PTF ( polynomial threshold function ) gates at the bottom. Previously, it was open whether a super-linear lower bound holds for AND of PTFs. • There is a PRG of seed length n/2+O(s⋅R (2) (G)⋅log⁡(s/ε)⋅log⁡(1/ε)) that ε-fools FORMULA[s]∘G. For the special case of FORMULA[s]∘LTF, i.e., size- s formulas with LTF ( linear threshold function ) gates at the bottom, we get the better seed length O(n 1/2 ⋅s 1/4 ⋅log⁡(n)⋅log⁡(n/ε)). In particular, this provides the first non-trivial PRG (with seed length o(n)) for intersections of n halfspaces in the regime where ε≤1/n, complementing a recent result of [45]. • There exists a randomized 2 n-t #SAT algorithm for FORMULA[s]∘G, where t=Ω(n\√s⋅log 2 ⁡(s)⋅R (2) (G))/1/2. In particular, this implies a nontrivial #SAT algorithm for FORMULA[n 1.99 ]∘LTF. • The Minimum Circuit Size Problem is not in FORMULA[n 1.99 ]∘XOR; thereby making progress on hardness magnification, in connection with results from [14, 46]. On the algorithmic side, we show that the concept class FORMULA[n 1.99 ]∘XOR can be PAC-learned in time 2 O(n/log n) .

Measuring the Influence of Product Placements in Korean Dramas on the Act of Purchase of Filipino Audiences

Nowadays, product placements are becoming a prominent marketing strategy used primarily on films in other countries, such as in Korean dramas, but rarely or poorly done in the Philippines. This research aims to determine if the perceived influence of actors, product-story congruence, and the perceived influence of product function affects the Filipino audiences' act of purchase. The study consisted of 200 male and female audiences of Korean dramas, ages 18 to 34 years old and used simple random sampling. The validity and reliability of the survey were also tested, consisting of 30 respondents with an alpha value of 0.936. Regression analysis was utilized to analyze the strength of correlations between the independent and dependent variables. The results show that all of the three independent variables are significant to the dependent variable, which implies that it affects their act of purchase and brand awareness.

New Data and Collaborations at the Saccharomyces Genome Database: Updated reference genome, alleles, and the Alliance of Genome Resources

Saccharomyces cerevisiae is used to provide fundamental understanding of eukaryotic genetics, gene product function, and cellular biological processes. Saccharomyces Genome Database (SGD) has been supporting the yeast research community since 1993, serving as its de facto hub. Over the years, SGD has maintained the genetic nomenclature, chromosome maps, and functional annotation, and developed various tools and methods for analysis and curation of a variety of emerging data types. More recently, SGD and six other model organism focused knowledgebases have come together to create the Alliance of Genome Resources to develop sustainable genome information resources that promote and support the use of various model organisms to understand the genetic and genomic bases of human biology and disease. Here we describe recent activities at SGD, including the latest reference genome annotation update, the development of a curation system for mutant alleles, and new pages addressing homology across model organisms as well as the use of yeast to study human disease.

Conduction Transformation-Based Coordination Method for Conflict in Product Adaptive Design Driven by Functional Requirements

A conduction transformation-based coordination method for product structure optimization design was proposed for the conflict between satisfying product functional requirements and realizing adaptive modification. Customer functional requirements were analyzed hierarchically, the extension domains that indicated the matching degree between customer requirement and product function were delimited; and then a multi-layer function-behavior-structure (FBS) mapping model was established. Product function-structure correlation analysis was carried out in two dimensions, i.e., “structure-structure”, and “structure-function”; a product structure behavior function (SBF) reverse conduction model was constructed based on FBS decomposition model; thus, to realize reverse conduction from structure layer to function layer. For conflict coordination in structure modification, extension transformation operations were created, the conduction transformation trigger unit was extracted, and the trigger condition was also clarified; thus, the coordination strategy for the contradiction in adaptive design could be generated by conducting active and conduction transformations. Finally, the effectiveness and feasibility of this method were verified with the structure optimization design of a delivery system of cutting machine as an example; and the discussion section emphasized that this proposed method used conduction transformation to address design conflict, instead of generating the optimal change propagation path, and how to obtain innovation inspiration.

New Data and Collaborations at the Saccharomyces Genome Database: Updated reference genome, alleles, and the Alliance of Genome Resources

Saccharomyces cerevisiae is used to provide fundamental understanding of eukaryotic genetics, gene product function, and cellular biological processes. Saccharomyces Genome Database (SGD) has been supporting the yeast research community since 1993, serving as its de facto hub. Over the years, SGD has maintained the genetic nomenclature, chromosome maps, and functional annotation, and developed various tools and methods for analysis and curation of a variety of emerging data types. More recently, SGD and six other model organism focused knowledgebases have come together to create the Alliance of Genome Resources to develop sustainable genome information resources that promote and support the use of various model organisms to understand the genetic and genomic bases of human biology and disease. Here we describe recent activities at SGD, including the latest reference genome annotation update, the development of a curation system for mutant alleles, and new pages addressing homology across model organisms as well as the use of yeast to study human disease.

Data-driven Product Functional Configuration: Patent Data and Hypergraph

Product functional configuration (PFC) is a common way for the firm to satisfy individual requirements of the customer and be carried out base on market analysis. This study aims to help firms analyze functions and carry out function configuration by the patent data. This paper proposes a patent data-driven product function configuration method based on a hypergraph network. It constructs a weighted network model to optimize the combination of product function quantity and object from the perspective of big data: (1) The functional knowledge contained in the patent is extracted. (2) The functional hypergraph (FH) is constructed according to the co-occurrence relationship of patent and applicant. (3) The function and patent weight are calculated from the perspective of the patent applicant and patent value. (4) The weight calculation model of PFC is built. (5) The weighted frequent subgraph algorithm is used to obtain the optimal function combination list. This method is applied in the innovative design process of a bathroom shower. The result indicates that this method designed in the study has a positive effect on helping firms detach optimal function candidates and develop a multi-function product.

Aligning Human and Computational Evaluations of Functional Design Similarity

Function drives many early design considerations in product development. Therefore, finding functionally similar examples is important when searching for sources of inspiration or evaluating designs against existing technology. However, it is difficult to capture what people consider to be functionally similar and therefore, if measures that compare function directly from the products themselves are meaningful. In this work, we compare human evaluations of similarity to computationally determined values, shedding light on how quantitative measures align with human perceptions of functional similarity. Human perception of functional similarity is considered at two levels of abstraction: (1) the high-level purpose of a product, and (2) a detailed view of how the product works. Human evaluations of similarity are quantified by crowdsourcing 1360 triplet ratings at each functional abstraction, and then compared to similarity that is computed between functional models. We demonstrate how different levels of abstraction and the fuzzy line between what is considered “similar” and “similar enough” may impact how these similarity measures are utilized, finding that different measures better align with human evaluations along each dimension. The results inform how product similarity can be leveraged by designers. Therefore, applications lie in creativity support tools, such as those used for design-by-analogy, or future computational methods in design that incorporate product function in addition to form.