FY*Asilencing by the GATA-motif variantFY*A(−69C)in a Caucasian family

Transfusion ◽  
2015 ◽  
Vol 55 (11) ◽  
pp. 2616-2619 ◽  
Author(s):  
Martin Písačka ◽  
Iuri Marinov ◽  
Miroslava Králová ◽  
Jana Králová ◽  
Michaela Kořánová ◽  
...  
Keyword(s):  
Caucasian Family ◽  
Gata Motif

scholarly journals Myopia-26, the female-limited form of early-onset high myopia, occurring in a European family

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Noémi Széll ◽  
Tamás Fehér ◽  
Zoltán Maróti ◽  
Tibor Kalmár ◽  
Dóra Latinovics ◽  
...  
Keyword(s):  
Middle Ages ◽  
Early Onset ◽  
Colour Vision ◽  
High Myopia ◽  
Field Testing ◽  
Cone Dystrophy ◽  
Ophthalmological Examination ◽  
Whole Exome ◽  
Caucasian Family ◽  
Cone System

Abstract Background Female-limited early-onset high myopia, also called Myopia-26 is a rare monogenic disorder characterized by severe short sightedness starting in early childhood and progressing to blindness potentially by the middle ages. Despite the X-linked locus of the mutated ARR3 gene, the disease paradoxically affects females only, with males being asymptomatic carriers. Previously, this disease has only been observed in Asian families and has not gone through detailed investigation concerning collateral symptoms or pathogenesis. Results We found a large Hungarian family displaying female-limited early-onset high myopia. Whole exome sequencing of two individuals identified a novel nonsense mutation (c.214C>T, p.Arg72*) in the ARR3 gene. We carried out basic ophthalmological testing for 18 family members, as well as detailed ophthalmological examination (intraocular pressure, axial length, fundus appearance, optical coherence tomography, visual field- testing) as well as colour vision- and electrophysiology tests (standard and multifocal electroretinography, pattern electroretinography and visual evoked potentials) for eight individuals. Ophthalmological examinations did not reveal any signs of cone dystrophy as opposed to animal models. Electrophysiology and colour vision tests similarly did not evidence a general cone system alteration, rather a central macular dysfunction affecting both the inner and outer (postreceptoral and receptoral) retinal structures in all patients with ARR3 mutation. Conclusions This is the first description of a Caucasian family displaying Myopia-26. We present two hypotheses that could potentially explain the pathomechanism of this disease.

Hemoglobin atlanta or α2β275 Leu→Pro (E19); An unstable variant found in several members of a caucasian family

1975 ◽  
Vol 386 (2) ◽  
pp. 538-541 ◽  
Author(s):  
M. Hubbard ◽  
E.F. Winton ◽  
J.G. Lindeman ◽  
P.L. Dessauer ◽  
J.B. Wilson ◽  
...  
Keyword(s):  
Caucasian Family

Cardiac amyloidosis associated with the transthyretin Ile122 mutation in a Caucasian family

Amyloid ◽  
2001 ◽  
Vol 8 (4) ◽  
pp. 263-269 ◽  
Author(s):  
Kamran Hamidi Asl ◽  
Masaaki Nakamura ◽  
Taro Yamashita ◽  
Merrill D. Benson
Keyword(s):  
Cardiac Amyloidosis ◽  
Caucasian Family

scholarly journals Expression of Itch in Sertoli cells is controlled via the interaction of E2F1/DP1 complex with E2F and GATA motif

2011 ◽  
Vol 1 (2) ◽  
pp. 152-158 ◽  
Author(s):  
Michelle W.M. Li ◽  
Will M. Lee ◽  
Wing-Yee Lui
Keyword(s):  
Sertoli Cells ◽  
Gata Motif

scholarly journals Verbs of falling and their argument structure in Circassian languages

2020 ◽  
Vol XVI (1) ◽  
pp. 723-756
Author(s):  
I. Bagirokova ◽  
◽  
D. Ryzhova ◽  
◽  
Keyword(s):  
Argument Structure ◽  
Cognitive Linguistics ◽  
Initial Point ◽  
Surface Expression ◽  
Special Importance ◽  
Vertical Orientation ◽  
Caucasian Family ◽  
Different Types ◽  
Corpus Data ◽  
Initial Source

This paper describes the semantics of falling in Adyghe and Kuban Kabardian from a typological perspective. The analysis is based on corpus data, accompanied by the results of elicitation. Although they represent the same Circassian branch of the Northwest Caucasian family, Adyghe and Kabardian still demonstrate some differences in the way their predicates of falling are lexicalized: while in Adyghe we have a distributive system which includes special lexical means for different types of falling (verbal root -fe- for falling from above, wəḳʷerejə- for losing vertical orientation, -zǝfor detachment, and verbs from adjacent semantic domains such as -we- ‘beat’ for destruction), there is only one dominant (-xwe-) and several peripheral predicates in the Kabardian language. What is peculiar about these languages, when compared to the available typological data, is that the parameter of orientation to the initial (Source) vs. final point (Goal) of movement is of special importance in lexicalizing cases of falling. In Circassian languages, simultaneous surface expression of Source and Goal of movement within a clause is prohibited for morphosyntactic reasons, and the lexemes denoting falling are divided into Source- vs. Goal-oriented ones. For some verbal roots, this orientation is an intrinsic semantic property (cf. -zǝ- which is always Source-oriented); in other cases, it is marked with specifi c affi xes (cf. a locative combination je-…-xǝ ‘down’ which marks re-orientation to the Source of falling of the initially Goal-oriented Adyghe verb -fe-). Thus, our analysis of the material may not only help to contribute to the general typology of falling but may throw light on such a phenomenon in cognitive linguistics as the emphasis on the fi nal point of movement in opposition to the initial point, also known as goal bias

Hematopoietic regulatory domain of gata1 gene is positively regulated by GATA1 protein in zebrafish embryos

Development ◽  
2001 ◽  
Vol 128 (12) ◽  
pp. 2341-2350
Author(s):  
Makoto Kobayashi ◽  
Keizo Nishikawa ◽  
Masayuki Yamamoto
Keyword(s):  
Gene Expression ◽  
Reporter Gene ◽  
Regulatory Region ◽  
Ectopic Expression ◽  
Transgenic Fish ◽  
Functional Domain ◽  
Cis Acting ◽  
Gfp Reporter ◽  
Gata Motif

Expression of gata1 is regulated through multiple cis-acting GATA motifs. To elucidate regulatory mechanisms of the gata1 gene, we have used zebrafish. To this end, we isolated and analyzed zebrafish gata1 genomic DNA, which resulted in the discovery of a novel intron that was unknown in previous analyses. This intron corresponds to the first intron of other vertebrate Gata1 genes. GFP reporter analyses revealed that this intron and a distal double GATA motif in the regulatory region are important for the regulation of zebrafish gata1 gene expression. To examine whether GATA1 regulates its own gene expression, we microinjected into embryos a GFP reporter gene linked successively to the gata1 gene regulatory region and to GATA1 mRNA. Surprisingly, ectopic expression of the reporter gene was induced at the site of GATA1 overexpression and was dependent on the distal double GATA motif. Functional domain analyses using transgenic fish lines that harbor the gata1-GFP reporter construct revealed that both the N- and C-terminal zinc-finger domains of GATA1, hence intact GATA1 function, are required for the ectopic GFP expression. These results provide the first in vivo evidence that gata1 gene expression undergoes positive autoregulation.

A Caucasian Family with the i Phenotype and Congenital Cataracts

Vox Sanguinis ◽  
1983 ◽  
Vol 44 (5) ◽  
pp. 322-325 ◽  
Author(s):  
E.B. Macdonald ◽  
R. Douglas ◽  
P.A. Harden
Keyword(s):  
Congenital Cataracts ◽  
Caucasian Family

Characterization of Hb djeifa [β98(FG5)Val→Ala] by DNA sequencing in a French caucasian family

Hemoglobin ◽  
1999 ◽  
Vol 23 (1) ◽  
pp. 73-77 ◽  
Author(s):  
P. Lacan ◽  
M. Aubry ◽  
A. Francina ◽  
N. Couprie ◽  
L. Dementhon ◽  
...  
Keyword(s):  
Dna Sequencing ◽  
Caucasian Family
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