scholarly journals Human RAD50 deficiency: Confirmation of a distinctive phenotype

2020 ◽  
Vol 182 (6) ◽  
pp. 1378-1386 ◽  
Author(s):  
Aviël Ragamin ◽  
Gökhan Yigit ◽  
Kristine Bousset ◽  
Filippo Beleggia ◽  
Frans W. Verheijen ◽  
...  
Keyword(s):  
Distinctive Phenotype

Specificity of gene expression in adipocytes

1985 ◽  
Vol 5 (2) ◽  
pp. 419-421
Author(s):  
K M Zezulak ◽  
H Green
Keyword(s):  
Gene Expression ◽  
Cell Types ◽  
Cell Type ◽  
3T3 Cells ◽  
Cell Type Specificity ◽  
Number Of Genes ◽  
Enhanced Expression ◽  
Adipose Cells ◽  
Distinctive Phenotype

During the differentiation of preadipose 3T3 cells into adipose cells, the mRNAs for three proteins increase strikingly in abundance. To determine the degree of cell-type specificity in the expression of these mRNAs, we estimated their abundances in several nonadipose tissues of the mouse. None of these mRNAs was strictly confined to adipocytes, but the ensemble of three mRNAs was rather specific to adipocytes. Insofar as is revealed by these three markers, the distinctive phenotype of adipocytes is the result of the enhanced expression of a number of genes, none of which is completely silent in all other cell types.

scholarly journals Cribriform-morular variant of thyroid carcinoma: a neoplasm with distinctive phenotype associated with the activation of the WNT/β-catenin pathway

2018 ◽  
Vol 31 (8) ◽  
pp. 1168-1179 ◽  
Author(s):  
José Manuel Cameselle-Teijeiro ◽  
Diego Peteiro-González ◽  
Javier Caneiro-Gómez ◽  
María Sánchez-Ares ◽  
Ihab Abdulkader ◽  
...  
Keyword(s):  
Thyroid Carcinoma ◽  
Cribriform Morular Variant ◽  
Distinctive Phenotype

scholarly journals Congenital immobility and stiffness related to biallelic ATAD1 variants

2020 ◽  
Vol 6 (6) ◽  
pp. e520
Author(s):  
Roxane Bunod ◽  
Diane Doummar ◽  
Sandra Whalen ◽  
Boris Keren ◽  
Sandra Chantot-Bastaraud ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
The Novel ◽  
Related Disorder ◽  
Exome Data ◽  
Auditory Responses ◽  
Spontaneous Movements ◽  
Whole Exome ◽  
Distinctive Phenotype

ObjectiveTo delineate the phenotype associated with biallelic ATAD1 variants.MethodsWe describe 2 new patients with ATAD1-related disorder diagnosed by whole-exome sequencing and compare their phenotype to 6 previous patients.ResultsPatients 1 and 2 had a similar distinctive phenotype comprising congenital stiffness of limbs, absent spontaneous movements, weak sucking, and hypoventilation. Both had absent brainstem evoked auditory responses (BEARs). Patient 1 carried the homozygous p.(His357Argfs*15) variant in ATAD1. In the light of the finding in patient 1, a second reading of exome data for patient 2 revealed the novel homozygous p.(Gly128Val) variant.ConclusionsAnalysis of the phenotypes of these 2 patients and of the 6 previous cases showed that biallelic ATAD1 mutations are responsible for a unique congenital encephalopathy likely comprising absent BEAR, different from hyperekplexia and other conditions with neonatal hypertonia.

scholarly journals EPI64 interacts with Slp1/JFC1 to coordinate Rab8a and Arf6 membrane trafficking

2012 ◽  
Vol 23 (4) ◽  
pp. 701-715 ◽  
Author(s):  
David E. Hokanson ◽  
Anthony P. Bretscher
Keyword(s):  
Hela Cells ◽  
Membrane Trafficking ◽  
Binding Proteins ◽  
Cell Function ◽  
Terminal Region ◽  
Cytoskeletal Organization ◽  
Vacuole Formation ◽  
Gtp Binding ◽  
Distinctive Phenotype ◽  
In Cells

Cell function requires the integration of cytoskeletal organization and membrane trafficking. Small GTP-binding proteins are key regulators of these processes. We find that EPI64, an apical microvillar protein with a Tre-2/Bub2/Cdc16 (TBC) domain that stabilizes active Arf6 and has RabGAP activity, regulates Arf6-dependent membrane trafficking. Expression of EPI64 in HeLa cells induces the accumulation of actin-coated vacuoles, a distinctive phenotype seen in cells expressing constitutively active Arf6. Expression of EPI64 with defective RabGAP activity does not induce vacuole formation. Coexpression of Rab8a suppresses the vacuole phenotype induced by EPI64, and EPI64 expression lowers the level of Rab8-GTP in cells, strongly suggesting that EPI64 has GAP activity toward Rab8a. JFC1, an effector for Rab8a, colocalizes with and binds directly to a C-terminal region of EPI64. Together this region and the N-terminal TBC domain of EPI64 are required for the accumulation of vacuoles. Through analysis of mutants that uncouple JFC1 from either EPI64 or from Rab8-GTP, our data suggest a model in which EPI64 binds JFC1 to recruit Rab8a-GTP for deactivation by the RabGAP activity of EPI64. We propose that EPI64 regulates membrane trafficking both by stabilizing Arf6-GTP and by inhibiting the recycling of membrane through the tubular endosome by decreasing Rab8a-GTP levels.

The Caloplaca crenulatella species complex; its intricate taxonomy and description of a new species

2011 ◽  
Vol 43 (5) ◽  
pp. 467-481 ◽  
Author(s):  
Jan VONDRÁK ◽  
Pavel ŘÍHA ◽  
Olexii REDCHENKO ◽  
Olga VONDRÁKOVÁ ◽  
Pavel HROUZEK ◽  
...  
Keyword(s):  
New Species ◽  
North American ◽  
Species Complex ◽  
European Species ◽  
The North ◽  
Its Nrdna ◽  
A New Species ◽  
Distinctive Phenotype

AbstractThe Caloplaca crenulatella species complex is monophyletic, based on analysis of ITS nrDNA sequences. It is characterized mainly by its ascospores and a simplified thallus. Caloplaca aquensis, C. borysthenica, C. interfulgens, C. lactea, C. marmorata and C. tominii represent well-defined monophyletic lineages within it. Caloplaca diffusa, described here as a new species, is a well-supported lineage with a distinctive phenotype. Caloplaca crenulatella s. lat. and C. ferrarii s. lat. are heterogeneous taxa appearing in four and two places respectively within our tree. Caloplaca ochracea also belongs to the group, although it has different ascospore characters. Caloplaca gyalolechiaeformis and C. pseudocitrina are later synonyms of C. tominii. Arctic and North American sorediate specimens morphologically very close to C. tominii represent a separate lineage recently recognized as C. erichansenii. The North American Caloplaca nashii has a C. crenulatella-like phenotype but does not belong to the C. crenulatella complex. The identities of Caloplaca lacteoides and Caloplaca epigaea are not clear, but the latter may be a terricolous ecotype of one of the entities within C. crenulatella s. lat. A key to the European species of the group is provided.

A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa

2016 ◽  
Vol 62 (2) ◽  
pp. 325-328 ◽  
Author(s):  
Mohammed Al-Bughaili ◽  
Teresa M Neuhann ◽  
Ricarda Flöttmann ◽  
Stefan Mundlos ◽  
Malte Spielmann ◽  
...  
Keyword(s):  
Missense Mutation ◽  
De Novo ◽  
Cutis Laxa ◽  
Distinctive Phenotype

scholarly journals Distinctive phenotype in a girl with Rett syndrome and a novel 25 bp deletion mutation in exon 4 (c.881_905del25, nm_004992.3) of the MECP2 gene

2014 ◽  
Vol 58 (4) ◽  
pp. 283-5
Author(s):  
Matej Katavić ◽  
Monika Kukuruzović ◽  
Maša Malenica ◽  
Saša Seneca ◽  
Ljerka Cvitanović Šojat
Keyword(s):  
Rett Syndrome ◽  
Deletion Mutation ◽  
Mecp2 Gene ◽  
Exon 4 ◽  
Distinctive Phenotype
Sign in / Sign up

Export Citation Format

Share Document