Early onset lymphoedema, recessive form ? a new form of genetic lymphoedema syndrome

1986 ◽  
Vol 145 (3) ◽  
pp. 195-198 ◽  
Author(s):  
J. M�cke ◽  
W. Hoepffner ◽  
G. Scheerschmidt ◽  
H. Gornig ◽  
K. Beyreiss
Keyword(s):  
Early Onset ◽  
Recessive Form ◽  
New Form

scholarly journals CCDC66 frameshift variant associated with a new form of early-onset progressive retinal atrophy in Portuguese Water Dogs

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Leonardo Murgiano ◽  
Doreen Becker ◽  
Courtney Spector ◽  
Kendall Carlin ◽  
Evelyn Santana ◽  
...  
Keyword(s):  
Early Onset ◽  
Autosomal Recessive ◽  
Late Onset ◽  
Unrelated Control ◽  
Progressive Retinal Atrophy ◽  
Mutant Transcript ◽  
Retinal Atrophy ◽  
Portuguese Water ◽  
New Form

AbstractAberrant photoreceptor function or morphogenesis leads to blinding retinal degenerative diseases, the majority of which have a genetic aetiology. A variant in PRCD previously identified in Portuguese Water Dogs (PWDs) underlies prcd (progressive rod-cone degeneration), an autosomal recessive progressive retinal atrophy (PRA) with a late onset at 3–6 years of age or older. Herein, we have identified a new form of early-onset PRA (EOPRA) in the same breed. Pedigree analysis suggested an autosomal recessive inheritance. Four PWD full-siblings affected with EOPRA diagnosed at 2–3 years of age were genotyped (173,661 SNPs) along with 2 unaffected siblings, 2 unaffected parents, and 15 unrelated control PWDs. GWAS, linkage analysis and homozygosity mapping defined a 26-Mb candidate region in canine chromosome 20. Whole-genome sequencing in one affected dog and its obligatory carrier parents identified a 1 bp insertion (CFA20:g.33,717,704_33,717,705insT (CanFam3.1); c.2262_c.2263insA) in CCDC66 predicted to cause a frameshift and truncation (p.Val747SerfsTer8). Screening of an extended PWD population confirmed perfect co-segregation of this genetic variant with the disease. Western blot analysis of COS-1 cells transfected with recombinant mutant CCDC66 expression constructs showed the mutant transcript translated into a truncated protein. Furthermore, in vitro studies suggest that the mutant CCDC66 is mislocalized to the nucleus relative to wild type CCDC66. CCDC66 variants have been associated with inherited retinal degenerations (RDs) including canine and murine ciliopathies. As genetic variants affecting the primary cilium can cause ciliopathies in which RD may be either the sole clinical manifestation or part of a syndrome, our findings further support a role for CCDC66 in retinal function and viability, potentially through its ciliary function.

scholarly journals Genomic instability and early-onset colorectal cancer: a new form of classifying the disease?

2016 ◽  
Vol 27 ◽  
pp. vi185
Author(s):  
M. Arriba ◽  
J.L. García ◽  
J.M. Cano ◽  
D. Rueda ◽  
J. Pérez ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Genomic Instability ◽  
Early Onset ◽  
New Form ◽  
Early Onset Colorectal Cancer

scholarly journals More severe phenotype of early‐onset osteoporosis associated with recessive form of LRP5 and combination with DKK1 or WNT3A

2021 ◽  
Author(s):  
Caroline Caetano da Silva ◽  
Manon Ricquebourg ◽  
Philippe Orcel ◽  
Stéphanie Fabre ◽  
Thomas Funck‐Brentano ◽  
...  
Keyword(s):  
Early Onset ◽  
Severe Phenotype ◽  
Recessive Form

scholarly journals An additional type of male sterility and inherited urinary obstruction in mice with the t-haplotype th7

1996 ◽  
Vol 67 (3) ◽  
pp. 249-256 ◽  
Author(s):  
Mary F. Lyon
Keyword(s):  
Male Sterility ◽  
Urinary Obstruction ◽  
Transmission Ratio Distortion ◽  
Chromosome 17 ◽  
Abnormal Behaviour ◽  
Accessory Sex Glands ◽  
Recessive Form ◽  
Ratio Distortion ◽  
New Form ◽  
T Haplotype

SummaryThe t-complex on mouse chromosome 17 results in transmission ratio distortion in males heterozygous for complete haplotypes, and sterility in those homozygous for semi-lethal or doubly heterozygous for complementing lethal haplotypes. This sterility is due to inability of spermatozoa to fertilize. The haplotype th7 is an unusual laboratory-derived haplotype, postulated to carry a small duplication of t chromatin. Males heterozygous for th7 show a new form of sterility, apparently due to failure to form copulation plugs during mating. This is accompanied by a strong propensity to acute urinary obstruction. It is suggested that both the failure to form copulation plugs and the urinary obstruction are due to some abnormality in function of the accessory sex glands, and are the result of incorrect dosage of a gene in the postulated duplication. The symbol Msu for male sterility and urinary obstruction is suggested for the locus concerned. Previously a recessive form of abnormal behaviour had also been attributed to this duplication.

Fine Structure of Platelet Interaction with a New Microcrystalline Collagen Preparation

1974 ◽  
Vol 32 ◽  
pp. 58-59
Author(s):  
W. H. Zucker ◽  
R. G. Mason
Keyword(s):  
Fine Structure ◽  
Platelet Aggregation ◽  
Hydrochloric Acid ◽  
Whole Blood ◽  
Platelet Adhesion ◽  
Hemostatic Agent ◽  
Native Collagen ◽  
Fibrillar Morphology ◽  
Clinical Interest ◽  
New Form

Platelet adhesion initiates platelet aggregation and is an important component of the hemostatic process. Since the development of a new form of collagen as a topical hemostatic agent is of both basic and clinical interest, an ultrastructural and hematologic study of the interaction of platelets with the microcrystalline collagen preparation was undertaken.In this study, whole blood anticoagulated with EDTA was used in order to inhibit aggregation and permit study of platelet adhesion to collagen as an isolated event. The microcrystalline collagen was prepared from bovine dermal corium; milling was with sharp blades. The preparation consists of partial hydrochloric acid amine collagen salts and retains much of the fibrillar morphology of native collagen.

The staining pattern of the tropomyosin sequence is displayed in a new paracrystal

1986 ◽  
Vol 44 ◽  
pp. 150-151
Author(s):  
M.K. Lamvik ◽  
L.L. Klatt
Keyword(s):  
Amino Acid ◽  
Amino Acid Sequence ◽  
Staining Pattern ◽  
Banding Patterns ◽  
Mass Thickness ◽  
New Form

Tropomyosin paracrystals have been used extensively as test specimens and magnification standards due to their clear periodic banding patterns. The paracrystal type discovered by Ohtsuki1 has been of particular interest as a test of unstained specimens because of alternating bands that differ by 50% in mass thickness. While producing specimens of this type, we came across a new paracrystal form. Since this new form displays aligned tropomyosin molecules without the overlaps that are characteristic of the Ohtsuki-type paracrystal, it presents a staining pattern that corresponds to the amino acid sequence of the molecule.

Association of vitamin D receptor genotypes with early onset rheumatoid arthritis

2001 ◽  
Vol 28 (1) ◽  
pp. 89-93 ◽  
Author(s):  
J. R. Garcia-Lozano ◽  
M. F. Gonzalez-Escribano ◽  
A. Valenzuela ◽  
A. Garcia ◽  
A. Nunez-Roldan
Keyword(s):  
Rheumatoid Arthritis ◽  
Vitamin D ◽  
Vitamin D Receptor ◽  
Early Onset
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