scholarly journals NOD2 Mutation-Associated Case with Blau Syndrome Triggered by BCG Vaccination

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 117
Author(s):  
Akiko Arakawa ◽  
Naotomo Kambe ◽  
Ryuta Nishikomori ◽  
Akiyo Tanabe ◽  
Masamichi Ueda ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Topical Corticosteroid ◽  
Genetic Background ◽  
Skin Lesions ◽  
Blau Syndrome ◽  
Nod2 Mutation ◽  
Bcg Vaccination ◽  
Cystic Tumors ◽  
Ophthalmologic Examination ◽  
Inflammatory Changes

We describe a patient who developed multiple granulomatous skin lesions after Bacille de Calmette et Guérin (BCG) vaccination without significant effect by topical corticosteroid, followed by painless cystic tumors on the bilateral knees and hands and inflammatory changes on ophthalmologic examination. A functional mutation in NOD2 was detected by a genetic analysis, and he was diagnosed as sporadic Blau syndrome. Since NOD2 acts as a sensor for the BCG component, it is possible that BCG vaccination may trigger granuloma formation in Blau syndrome patients with such genetic background.

scholarly journals Genetic and Molecular Genetic Basis of Nuclear-Plastid Incompatibilities

Plants ◽  
2019 ◽  
Vol 9 (1) ◽  
pp. 23
Author(s):  
Vera S. Bogdanova
Keyword(s):  
Experimental Design ◽  
Genetic Analysis ◽  
Genetic Mapping ◽  
Genetic Background ◽  
Genetic Basis ◽  
Molecular Genetic ◽  
Number Of Species ◽  
Molecular Genetic Basis ◽  
Nuclear Loci

Genetic analysis of nuclear-cytoplasm incompatibilities is not straightforward and requires an elaborated experimental design. A number of species have been genetically studied, but notable advances in genetic mapping of nuclear loci involved in nuclear-plastid incompatibility have been achieved only in wheat and pea. This review focuses on the study of the genetic background underlying nuclear-plastid incompatibilities, including cases where the molecular genetic basis of such incompatibility has been unveiled, such as in tobacco, Oenothera, pea, and wheat.

scholarly journals Blau Syndrome–Associated Nod2 Mutation Alters Expression of Full-Length NOD2 and Limits Responses to Muramyl Dipeptide in Knock-in Mice

2014 ◽  
Vol 194 (1) ◽  
pp. 349-357 ◽  
Author(s):  
Jae Dugan ◽  
Eric Griffiths ◽  
Paige Snow ◽  
Holly Rosenzweig ◽  
Ellen Lee ◽  
...  
Keyword(s):  
Muramyl Dipeptide ◽  
Full Length ◽  
Blau Syndrome ◽  
Nod2 Mutation

scholarly journals Persistent one-way walking in a circular arena in Drosophila melanogaster Canton-S strain

2017 ◽  
Author(s):  
Chengfeng Xiao ◽  
Shuang Qiu ◽  
R Meldrum Robertson
Keyword(s):  
Drosophila Melanogaster ◽  
Genetic Analysis ◽  
Y Chromosome ◽  
Genetic Background ◽  
Chromosome 2 ◽  
Wild Type ◽  
Promoting Effect ◽  
Directional Change ◽  
Pleiotropic Function

AbstractWe describe persistent one-way walking of Drosophila melanogaster in a circular arena. Wild-type Canton-S adult flies walked in one direction, counter-clockwise or clockwise, for minutes, whereas white-eyed mutant w1118 changed directions frequently. Locomotion in the circular arena could be classified into four components: counter-clockwise walking, clockwise walking, nondirectional walking and pausing. Genetic analysis revealed that while wild-type genetic background was associated with reduced directional change and reduced numbers of one-way (including counterclockwise and clockwise) and nondirectional walks, the white (w+) locus promoted persistent oneway walking by increasing the maximal duration of one-way episodes. The promoting effect of w+ was further supported by the observations that (1) w+ duplicated to the Y chromosome, (2) four genomic copies of mini-white inserted on the autosomes, and (3) pan-neuronal overexpression of the White protein increased the maximal duration of one-way episodes, and that RNAi knockdown of w+ in the neurons decreased the maximal duration of one-way episodes. These results suggested a pleiotropic function of w+ in promoting persistent one-way walking in the circular arena.

THE ACTION OF THE INTENSIFIER (IN) GENE IN FLAVONOID PRODUCTION IN ALEURONE TISSUE OF MAIZE

1978 ◽  
Vol 20 (3) ◽  
pp. 337-347 ◽  
Author(s):  
Arjula R. Reddy ◽  
Peter A. Peterson
Keyword(s):  
Genetic Analysis ◽  
Genetic Background ◽  
Pigment Composition ◽  
Recessive Condition ◽  
System A ◽  
Anthocyanin Pathway ◽  
Controlling Element ◽  
Comparative Genetic Analysis ◽  
Aleurone Tissue ◽  
Qualitative Changes

The intensifier (in) allele in the homozygous recessive condition, in the appropriate genetic background, accentuates the formation of anthocyanin pigments in the aleurone tissue of maize. In a comparative genetic analysis with In and in combinations of five gene loci of the anthocyanin pathway, A, A2, Bz, Bz2, and Pr, in single and double recessive condition, it was possible to determine the effect of in on the expression of these genes in terms of the quality and quantity of the accumulated pigments. It was found that the recessive in greatly increases the quantity of anthocyanins, 3-deoxy anthocyanins, and leucoanthocyanidins in appropriate genotypes. On the contrary, in did not cause any qualitative differences in the pigment composition. The in showed a dosage effect in increasing the pigment levels. Also, observations were made on the interaction pattern of in with certain controlling-element alleles of the En system. A significant increase in the pigment content was observed due to the in effect without any qualitative changes. The nature of in action and its position in the anthocyanin pathway is discussed in the light of these data.

scholarly journals Congenital Microphthalmic Syndrome in a Swine

2018 ◽  
Vol 2018 ◽  
pp. 1-6 ◽  
Author(s):  
Radka Andrysikova ◽  
Titus Sydler ◽  
Dolf Kümmerlen ◽  
Wolfgang Pendl ◽  
Robert Graage ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Histopathological Examination ◽  
Skin Lesions ◽  
Lumbar Spinal Cord ◽  
First Case ◽  
Finishing Pig ◽  
Ophthalmologic Examination ◽  
Porcine Teschovirus ◽  
Lumbar Spinal ◽  
Retinal Dysplasia

A 17-week-old crossbred finishing pig was presented for lameness of approximately one week. Clinical evaluation, including ophthalmologic examination, revealed ataxia, partial flaccid paresis of the pelvic limbs, skin lesions at feet and claws, and severely reduced vision/blindness. Both eyes had multiple persistent pupillary membranes (iris-to-iris and iris-to-lens) and hypermature cataracts. Histopathological examination of the eyes revealed microphthalmia, microphakia with cataract formation, myovascularised membrane in the vitreous, retinal detachment, and retinal dysplasia. Microscopic examination of tissues collected postmortem demonstrated nonsuppurative polioencephalomyelitis with the most prominent inflammatory lesions in the lumbar spinal cord. Subsequently, presumed Teschen/Talfan disease was confirmed by porcine teschovirus identification in the spinal cord using the reverse transcription-polymerase chain reaction (RT-PCR). To the authors’ knowledge, this is the first case report describing in detail histopathological changes in the porcine congenital microphthalmic syndrome.

AB0029 Preliminary results on functional analysis of a card15/nod2 mutation (P.E383K) in patients with BLAU syndrome

2013 ◽  
Vol 71 (Suppl 3) ◽  
pp. 639.4-639
Author(s):  
P. Galozzi ◽  
E. Greco ◽  
A. Gava ◽  
P. Sfriso ◽  
D. Basso ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Blau Syndrome ◽  
Nod2 Mutation ◽  
Preliminary Results

Blau Arteritis Resembling Takayasu Disease with a Novel NOD2 Mutation

2012 ◽  
Vol 39 (9) ◽  
pp. 1888-1892 ◽  
Author(s):  
RAJU P. KHUBCHANDANI ◽  
RACHANA HASIJA ◽  
ISABELLE TOUITOU ◽  
CHETNA KHEMANI ◽  
CARINE H. WOUTERS ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Blau Syndrome ◽  
Current Case ◽  
Nod2 Mutation ◽  
Nucleotide Oligomerization ◽  
Exon 4 ◽  
Clinical Description ◽  
Takayasu Disease ◽  
Nucleotide Oligomerization Domain ◽  
Oligomerization Domain

Objective.To put forward a new concept — Blau arteritis, a form of large-vessel vasculitis phenotypically related to Takayasu disease but genetically and clinically part of an expanded phenotype of Blau syndrome.Methods.We provide a clinical description of a new case and summarize previously published cases of arteritis associated with Blau syndrome. Genetic testing was performed by direct sequencing of exon 4 of the NOD2 gene.Results.The case described and those reviewed from the literature demonstrate the emerging phenotype of Takayasu-like arteritis in patients with Blau syndrome. Although most patients described to date depict an otherwise classic Blau syndrome phenotype, the current case was atypical in that the predominant features were arteritic. A novel substitution, G464W, in a highly conserved position near the nucleotide oligomerization domain of the NOD2 protein is also described.Conclusion.Blau arteritis can be observed in the context of both typical and atypical (incomplete) Blau syndrome. The associated mutation in the NOD2 gene raises the question of the potential importance of this gene among patients with “primary” forms of Takayasu arteritis.

scholarly journals IgA Vasculitis and IgA Nephropathy: Same Disease?

2021 ◽  
Vol 10 (11) ◽  
pp. 2310
Author(s):  
Evangeline Pillebout
Keyword(s):  
Iga Nephropathy ◽  
Genetic Background ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Skin Lesions ◽  
Therapeutic Strategies ◽  
Iga Vasculitis ◽  
Therapeutic Trials ◽  
Renal Prognosis ◽  
Systemic Form

Many authors suggested that IgA Vasculitis (IgAV) and IgA Nephropathy (IgAN) would be two clinical manifestations of the same disease; in particular, that IgAV would be the systemic form of the IgAN. A limited number of studies have included sufficient children or adults with IgAN or IgAV (with or without nephropathy) and followed long enough to conclude on differences or similarities in terms of clinical, biological or histological presentation, physiopathology, genetics or prognosis. All therapeutic trials available on IgAN excluded patients with vasculitis. IgAV and IgAN could represent different extremities of a continuous spectrum of the same disease. Due to skin rash, patients with IgAV are diagnosed precociously. Conversely, because of the absence of any clinical signs, a renal biopsy is practiced for patients with an IgAN to confirm nephropathy at any time of the evolution of the disease, which could explain the frequent chronic lesions at diagnosis. Nevertheless, the question that remains unsolved is why do patients with IgAN not have skin lesions and some patients with IgAV not have nephropathy? Larger clinical studies are needed, including both diseases, with a common histological classification, and stratified on age and genetic background to assess renal prognosis and therapeutic strategies.

scholarly journals Intergeneric hybrids of Phalaenopsis 2166 x Vanda ‘Saint Valentine’ showing maternal inheritance: Genetic analysis based on ndhE partial gene

2020 ◽  
Vol 21 (11) ◽  
Author(s):  
Murni Dwiati ◽  
Agus Susanto ◽  
Lucky Prayoga
Keyword(s):  
Genetic Analysis ◽  
Genetic Background ◽  
Maternal Inheritance ◽  
Genetic Characterization ◽  
Female Parent ◽  
Intergeneric Hybrids ◽  
The Other ◽  
Phenotypic Traits ◽  
Intergeneric Hybridization ◽  
Inheritance Pattern

Abstract. Dwiati M, Susanto AH, Prayoga L. 2020. Intergeneric hybrids of Phalaenopsis 2166 x Vanda ‘Saint Valentine’ showing maternal inheritance: Genetic analysis based on ndhE partial gene. Biodiversitas 21: 5138-5145. Genetic characterization in the intergeneric hybridization of orchids employing a particular molecular marker, such as ndhE gene, is needed to avoid phenotypic plasticity. The hybridization between Phalaenopsis 2166 as a female parent and Vanda ‘Saint Valentine'as a male parent has been successfully made to produce various leaf shapes and colors of the hybrid seedlings, which tend to resemble those of the female parent. This study aims to assess whether the maternally phenotypic traits of the hybrids of Phalaenopsis 2166 x Vanda ‘Saint Valentine’ are congruent with the inheritance pattern of ndhE partial sequences. The result reveals that the ndhE partial sequences of the hybrids are seemingly similar to that of Phalaenopsis 2166 as the female parent rather than to that of Vanda ‘Saint Valentine’. It is also found that three hybrids, i.e. F1.9, F1.11, and F1.14 show slightly different ndhE partial sequences from those of the other hybrids in that some base substitutions are observed. In general, the ndhE partial sequences of the hybrids are maternally inherited. This finding provides a fact that maternally phenotypic traits of the hybrids of Phalaenopsis 2166 x Vanda ‘Saint Valentine’ have strong genetic background rather than environmental involvement.

Sign in / Sign up

Export Citation Format

Share Document