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Cutaneous asthenia (Ehlers-Danlos-like syndrome) of Burmese cats.
Hansen N, Foster SF, Burrows AK, Mackie J, Malik R. Hansen N, et al. J Feline Med Surg. 2015 Nov;17(11):954-63. doi: 10.1177/1098612X15610683. J Feline Med Surg. 2015. PMID: 26486982
An increased skin extensibility index (>23%) supported a diagnosis of cutaneous asthenia (Ehlers-Danlos-like syndrome), which has been reported as an inherited condition of Burmese cats in Australia, New Zealand and Europe. An additional Burm …
An increased skin extensibility index (>23%) supported a diagnosis of cutaneous asthenia (Ehlers-Danlos-like …
Connective Tissue Disorders in Domestic Animals.
Roberts JH, Halper J. Roberts JH, et al. Adv Exp Med Biol. 2021;1348:325-335. doi: 10.1007/978-3-030-80614-9_15. Adv Exp Med Biol. 2021. PMID: 34807427
Because of their low prevalence, not much progress has been made not only in improved diagnosis but also in our understanding of the biochemical basis and pathogenesis of these diseases in animals. Ehlers-Danlos syndrome (EDS) described in dogs already in 1943 and l …
Because of their low prevalence, not much progress has been made not only in improved diagnosis but also in our understanding of the biochem …
Physical activity and physical fitness in children with heritable connective tissue disorders.
de Koning L, Warnink-Kavelaars J, van Rossum M, Limmen S, Van der Looven R, Muiño-Mosquera L, van der Hulst A, Oosterlaan J, Rombaut L, Engelbert R; Pediatric Heritable Connective Tissue Disorders Study Group. de Koning L, et al. Front Pediatr. 2023 Mar 17;11:1057070. doi: 10.3389/fped.2023.1057070. eCollection 2023. Front Pediatr. 2023. PMID: 37009265 Free PMC article.
RESULTS: A total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8-15.8) years, diagnosed with Marfan syndrome (MFS), n = 37, Loeys-Dietz syndrome (LDS), n = 6, and genetically confirmed Ehlers-Danlos (EDS) syndromes, n = 13 (including classi …
RESULTS: A total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8-15.8) years, diagnosed with Marfan syndrome (MFS) …
Independent COL5A1 Variants in Cats with Ehlers-Danlos Syndrome.
Kiener S, Apostolopoulos N, Schissler J, Hass PK, Leuthard F, Jagannathan V, Schuppisser C, Soto S, Welle M, Mayer U, Leeb T, Fischer NM, Kaessmeyer S. Kiener S, et al. Genes (Basel). 2022 Apr 29;13(5):797. doi: 10.3390/genes13050797. Genes (Basel). 2022. PMID: 35627182 Free PMC article.
We investigated four cats with similar clinical skin-related signs strongly suggestive of Ehlers-Danlos syndrome (EDS). ...Transmission electron microscopy in one case demonstrated abnormalities in the collagen fibril organization and structure. The genomes o …
We investigated four cats with similar clinical skin-related signs strongly suggestive of Ehlers-Danlos syndrome (EDS). …
Diaphragmatic and perineal hernias associated with cutaneous asthenia in a cat.
Benitah N, Matousek JL, Barnes RF, Lichtensteiger CA, Campbell KL. Benitah N, et al. J Am Vet Med Assoc. 2004 Mar 1;224(5):706-9, 698. doi: 10.2460/javma.2004.224.706. J Am Vet Med Assoc. 2004. PMID: 15002808 Free article.
An 11-year-old cat was evaluated because of dyspnea. Since 11 months of age, the cat had hyperextensibility of the skin consistent with cutaneous asthenia. ...Electron microscopic examination of skin specimens revealed collagen fibers of highly variabl …
An 11-year-old cat was evaluated because of dyspnea. Since 11 months of age, the cat had hyperextensibility of the skin consis …
A frameshift variant in the COL5A1 gene in a cat with Ehlers-Danlos syndrome.
Spycher M, Bauer A, Jagannathan V, Frizzi M, De Lucia M, Leeb T. Spycher M, et al. Anim Genet. 2018 Dec;49(6):641-644. doi: 10.1111/age.12727. Epub 2018 Sep 23. Anim Genet. 2018. PMID: 30246406
Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defective collagen synthesis or incorrect assembly of the collagen triple helical structure. ...Sanger sequencing confirmed that the variant was present in the affected cat …
Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defective collagen synthesis or inc …
Connective tissue disorders in domestic animals.
Halper J. Halper J. Adv Exp Med Biol. 2014;802:231-40. doi: 10.1007/978-94-007-7893-1_14. Adv Exp Med Biol. 2014. PMID: 24443030 Review.
Though soft tissue disorders have been recognized and described to some detail in several types of domestic animals and small mammals for some years, not much progress has been made in our understanding of the biochemical basis and pathogenesis of these diseases in animals. Eh …
Though soft tissue disorders have been recognized and described to some detail in several types of domestic animals and small mammals for so …
Identification of an ADAMTS2 frameshift variant in a cat family with Ehlers-Danlos syndrome.
Simon R, Kiener S, Thom N, Schäfer L, Müller J, Schlohsarczyk EK, Gärtner U, Herden C, Leeb T, Lühken G. Simon R, et al. G3 (Bethesda). 2023 Aug 30;13(9):jkad152. doi: 10.1093/g3journal/jkad152. G3 (Bethesda). 2023. PMID: 37462293 Free PMC article.
A one base pair duplication leading to a frameshift in the candidate gene ADAMTS2 was identified, p.(Ser235fs*3). All 4 affected cats carried the frameshift duplication in a homozygous state. Genotypes at this variant showed perfect cosegregation with the autosomal recessi …
A one base pair duplication leading to a frameshift in the candidate gene ADAMTS2 was identified, p.(Ser235fs*3). All 4 affected cats …
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A, Gray-Edwards H, Coghill LM, Lyons LA. McElroy A, et al. J Vet Intern Med. 2023 Sep-Oct;37(5):1716-1724. doi: 10.1111/jvim.16805. Epub 2023 Aug 18. J Vet Intern Med. 2023. PMID: 37594181 Free PMC article.
BACKGROUND: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders occurring in both human and veterinary patients. ...Whole genome sequencing and comparison with 413 cats in the 99 Lives Cat Genome Sequencing …
BACKGROUND: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders occurring in both …
Cutaneous wound healing in Ehlers-Danlos syndrome.
Freeman LJ, Hegreberg GA, Robinette JD. Freeman LJ, et al. Vet Surg. 1989 Mar-Apr;18(2):88-96. doi: 10.1111/j.1532-950x.1989.tb01049.x. Vet Surg. 1989. PMID: 2728341
Wound healing in five dogs and five cats affected with a connective tissue dysplasia resembling Ehlers-Danlos syndrome of humans was compared with wound healing in 10 nonaffected animals. ...Although delayed wound healing has been reported to be a complicatio …
Wound healing in five dogs and five cats affected with a connective tissue dysplasia resembling Ehlers-Danlos syndrome …
34 results