Results 41 to 50 of about 3,939 (213)

Evaluation of Genetic Causes of Cardiomyopathy in Childhood [PDF]

, 2015
Cardiomyopathy frequently has a genetic basis. In adults, mutations in genes encoding components of the sarcomere, cytoskeleton, or desmosome are frequent genetic causes of cardiomyopathy.
Ware, Stephanie M.
core   +1 more source

A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat

Orphanet Journal of Rare Diseases, 2021
Background Familial hypertrophic cardiomyopathy is a common inherited cardiovascular disorder in people. Many causal mutations have been identified, but about 40% of cases do not have a known causative mutation. Mutations in the ALMS1 gene are associated
Kathryn M. Meurs, Brian G. Williams, Dylan DeProspero, Steven G. Friedenberg, David E. Malarkey, J. Ashley Ezzell, Bruce W. Keene, Darcy B. Adin, Teresa C. DeFrancesco, Sandra Tou   +9 more
doaj   +1 more source

Development of models of care coordination for rare conditions: a qualitative study

Orphanet Journal of Rare Diseases, 2022
Introduction Improving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that patients receive.
Holly Walton, Amy Simpson, Angus I. G. Ramsay, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris, Naomi J. Fulop   +12 more
doaj   +1 more source

Presence of known feline ALMS1 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy in Japan.

PLoS ONE, 2023
Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats with a suspected genetic origin. Previous studies have identified five HCM-associated variants in three genes (Myosin binding protein C3: MYBPC3 p.A31P, p.A74T, p.R820W; Myosin ...
Noriyoshi Akiyama, Ryohei Suzuki, Takahiro Saito, Yunosuke Yuchi, Hisashi Ukawa, Yuki Matsumoto   +5 more
doaj   +1 more source

Wolfram to Alstrom: Analysis of a Diagnostic Error

Online Journal of Health & Allied Sciences, 2021
Wolfram syndrome (DIDMOAD) and Alstrom syndrome are two rare, clinically similar diseases inherited in an autosomal recessive pattern. We report the case of a 19 year old male who presented with left upper abdominal mass and two episodes of high coloured
Annapoorna Chakrabarty, Shipra Rai, Kavitha Saravu   +2 more
doaj  

Alstrom Syndrome [PDF]

, 2020
openaire   +2 more sources

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway [PDF]

, 2012
Alström syndrome (ALMS) is a progressive multi-systemic disorder characterized by cone-rod dystrophy, sensorineural hearing loss, childhood obesity, insulin resistance and cardiac, renal, and hepatic dysfunction. The gene responsible for Alström syndrome,
Collin, Gayle B., Jagger, Daniel J., King, Benjamin L., Maffei, Pietro, Marshall, Jan D., Milan, Gabriella, Naggert, Jürgen K.   +6 more
core   +6 more sources

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects. [PDF]

, 2016
Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity.
Andréasson, S., Arsenijevic, Y., Balzano, S., Bedoni, N., Blazaki, S.V., Boldt, K., Cisarova, K., Cremers, F.P., Decembrini, S., Di Gioia, S.A., El Zaoui, I., Farinelli, P., Giangreco, B., Khan, M.I., Kjellström, U., Mbefo, M.K., Messina, A., Micheal, S., Moulin, A.P., Nikopoulos, K., Plainis, S., Rivolta, C., Roepman, R., Royer-Bertrand, B., Tsika, C., Tsilimbaris, M.K., Ueffing, M.   +26 more
core   +2 more sources

Developing a taxonomy of care coordination for people living with rare conditions: a qualitative study

Orphanet Journal of Rare Diseases, 2022
Background Improving care coordination is particularly important for individuals with rare conditions (who may experience multiple inputs into their care, across different providers and settings). To develop and evaluate strategies to potentially improve
Holly Walton, Amy Simpson, Angus I. G. Ramsay, Emma Hudson, Amy Hunter, Jennifer Jones, Pei Li Ng, Kerry Leeson-Beevers, Lara Bloom, Joe Kai, Larissa Kerecuk, Maria Kokocinska, Alastair G. Sutcliffe, Stephen Morris, Naomi J. Fulop   +14 more
doaj   +1 more source

Instability and `Sausage-String' Appearance in Blood Vessels during High Blood Pressure [PDF]

Phys. Rev. Lett. 82, 1995-1998 (1999), 1998
A new Rayleigh-type instability is proposed to explain the `sausage-string' pattern of alternating constrictions and dilatations formed in blood vessels under influence of a vasoconstricting agent. Our theory involves the nonlinear elasticity characteristics of the vessel wall, and provides predictions for the conditions under which the cylindrical ...
arxiv   +1 more source