A novel variation in ANTXR2 gene causing Hyaline Fibromatosis Syndrome: A report from India

2021 ◽  
Author(s):  
Chakshu Chaudhry ◽  
Parminder Kaur ◽  
Priyanka Srivastava ◽  
Inusha Panigrahi ◽  
Anupriya Kaur
Keyword(s):  
Hyaline Fibromatosis Syndrome ◽  
Novel Variation

scholarly journals Breakout Group Allocation Schedules and the Social Golfer Problem with Adjacent Group Sizes

Symmetry ◽  
2020 ◽  
Vol 13 (1) ◽  
pp. 13
Author(s):  
Alice Miller ◽  
Matthew Barr ◽  
William Kavanagh ◽  
Ivaylo Valkov ◽  
Helen C. Purchase
Keyword(s):  
Design Theory ◽  
Teaching Experience ◽  
Combinatorial Design ◽  
Breakout Group ◽  
Online Resource ◽  
The Social ◽  
Adjacent Group ◽  
Group Allocation ◽  
Novel Variation ◽  
The Ideal

The current pandemic has led schools and universities to turn to online meeting software solutions such as Zoom and Microsoft Teams. The teaching experience can be enhanced via the use of breakout rooms for small group interaction. Over the course of a class (or over several classes), the class will be allocated to breakout groups multiple times over several rounds. It is desirable to mix the groups as much as possible, the ideal being that no two students appear in the same group in more than one round. In this paper, we discuss how the problem of scheduling balanced allocations of students to sequential breakout rooms directly corresponds to a novel variation of a well-known problem in combinatorics (the social golfer problem), which we call the social golfer problem with adjacent group sizes. We explain how solutions to this problem can be obtained using constructions from combinatorial design theory and how they can be used to obtain good, balanced breakout room allocation schedules. We present our solutions for up to 50 students and introduce an online resource that educators can access to immediately generate suitable allocation schedules.

scholarly journals CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome

2017 ◽  
Vol 8 (1) ◽  
Author(s):  
Jérôme Bürgi ◽  
Béatrice Kunz ◽  
Laurence Abrami ◽  
Julie Deuquet ◽  
Alessandra Piersigilli ◽  
...  
Keyword(s):  
Collagen Vi ◽  
Hyaline Fibromatosis Syndrome

scholarly journals Converging physiological roles of the anthrax toxin receptors

F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 1415
Author(s):  
Oksana A. Sergeeva ◽  
F. Gisou van der Goot
Keyword(s):  
Anthrax Toxin ◽  
Loss Of Function ◽  
Disease Symptoms ◽  
Hyaline Fibromatosis Syndrome ◽  
Anthrax Toxins ◽  
The Difference ◽  
Related Proteins ◽  
Tumor Endothelial Marker 8 ◽  
Insight Into ◽  
Shed Light

The anthrax toxin receptors—capillary morphogenesis gene 2 (CMG2) and tumor endothelial marker 8 (TEM8)—were identified almost 20 years ago, although few studies have moved beyond their roles as receptors for the anthrax toxins to address their physiological functions. In the last few years, insight into their endogenous roles has come from two rare diseases: hyaline fibromatosis syndrome, caused by mutations in CMG2, and growth retardation, alopecia, pseudo-anodontia, and optic atrophy (GAPO) syndrome, caused by loss-of-function mutations in TEM8. Although CMG2 and TEM8 are highly homologous at the protein level, the difference in disease symptoms points to variations in the physiological roles of the two anthrax receptors. Here, we focus on the similarities between these receptors in their ability to regulate extracellular matrix homeostasis, angiogenesis, cell migration, and skin elasticity. In this way, we shed light on how mutations in these two related proteins cause such seemingly different diseases and we highlight the existing knowledge gaps that could form the focus of future studies.

scholarly journals The Ground They Walk On: Photography and Narrative Inquiry

2014 ◽  
Author(s):  
Diane Ketelle
Keyword(s):  
Social Science ◽  
Narrative Inquiry ◽  
Research Method ◽  
School Principals ◽  
Social Science Research ◽  
Science Research ◽  
Photo Elicitation ◽  
Socially Constructed ◽  
Novel Variation

In this project, the author explores a novel variation on an established social science research method, photo-elicitation. The author photographed eight school principals during a two-year period and asked the principals to respond to the photographs by writing narratives below each. The author uses photography, reflections, and her own memories to construct descriptive narrative snapshots of the eight principals. Further, the author argues that this approach underscores how photographs are both technically and socially constructed and through the use of photo-elicitation new ways of understanding self and others in relation can be explored.

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2

2017 ◽  
Vol 38 (6) ◽  
pp. 533-536 ◽  
Author(s):  
Puneeth H. Somashekar ◽  
Anju Shukla ◽  
Katta M. Girisha
Keyword(s):  
Intrafamilial Variability ◽  
Novel Variation

An in vivo and in silico analysis of novel variation in TMBIM6 gene affecting cardiopulmonary traits of Indian goats

2020 ◽  
Vol 88 ◽  
pp. 102491
Author(s):  
Lipi Lekha Swain ◽  
Chinmoy Mishra ◽  
Siddhant Sekhar Sahoo ◽  
Gangadhar Nayak ◽  
Sukanta Kumar Pradhan ◽  
...  
Keyword(s):  
In Silico ◽  
In Silico Analysis ◽  
Silico Analysis ◽  
Novel Variation
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