Results 61 to 70 of about 15,376 (205)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

The tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils [PDF]

, 1993
Mice carrying the Tight skin (Tsk) mutation harbor a genomic duplication within the fibrillin-1 (Fbn 1) gene that results in a larger than normal in-frame Fbn 1 transcript.
Jimenez, Sergio A., Kielty, Cay M., Peters, Reiner, Raghunath, Michael, Sherratt, Michael J., Shuttleworth, C. Adrian, Siracusa, Linda D.   +6 more
core   +1 more source

Isolated aortic root dilation in homocystinuria [PDF]

, 2017
BACKGROUND: Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.
Davison, JE, Elliott, PM, Guha, N, Kemp, H, Lachmann, R, Lorenzini, M, Murphy, E, Pandya, B, Pitcher, A   +8 more
core   +2 more sources

Annuloaortic ectasia in a dog: long-term follow-up and immunofluorescent study

Veterinary Quarterly, 2021
A 4 month-old, 14.8 kg, male Newfoundland dog was presented for cardiovascular evaluation following detection of a heart murmur. Echocardiography revealed enlargement of the sinuses of Valsalva and marked, diffuse dilation of the ascending aorta ...
Etienne Côté, Rong-Mo Zhang, Nicole Kaiser, Dieter P. Reinhardt, Chelsea K. Martin   +4 more
doaj   +1 more source

Reduced Dietary Protein Induces Changes in the Dental Proteome

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
Low dietary protein (10%) from normal (20%) does change protein expression in tooth proteome and alter developmental pathways. Among the significant protein expressions changes are actin‐based myosins, tooth, and bone development proteins. Perplexingly tooth size is not altered, suggesting more nuanced phenotypic response to low dietary protein in ...
Robert W. Burroughs, Christopher J. Percival, Natasha S. Vitek   +2 more
wiley   +1 more source

Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries [PDF]

, 2017
Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant cardiovascular abnormalities, including abnormal elastin assembly, arterial ...
Broekelmann, Thomas J, Chu, Mon-Li, Halabi, Carmen M, Lee, Vivian S, Lin, Michelle, Mecham, Robert P   +5 more
core   +3 more sources

Dual Topical Therapy. The Future of Stretch Marks?

JEADV Clinical Practice, EarlyView.
ABSTRACT Striae distensae, or stretch marks, are linear scars that result from mechanical stretching of dermal tissue. They are most prevalent in women and in pregnancy, puberty, and obesity. The psychological and cosmetic symptoms may present a pathological synergy with the physical distress that stretch marks represent, especially if the patient is ...
Vicente Manuel Cisneros Rosell, Ramon Grimalt   +1 more
wiley   +1 more source

Surface modification of a polyether-urethane with RGD-containing peptides for enhanced cell attachment and signalling [PDF]

, 2005
of article examining the chemical modification of polyurethane with RGD-containing peptides offers a means of encouraging the adhesion, spreading and proliferation of cells cultured on its surface.
Black, R.A., Heyes, R.R., Jozwiak, A.B., Kielty, C.M., Smith, K.H.   +4 more
core  

Uncoupling TGFβ1 signalling from collagen protein synthesis in Dupuytren's disease

The Journal of Pathology, EarlyView.
Abstract Dupuytren's disease is a fibroproliferative disorder of the palmer fascia (PF) characterised by flexion contractures in the hand. Dupuytren's disease can be treated surgically, but disease recurrence rates are high, potentially due to continual production of matrisomal proteins.
Gabriella Cooper, Jade A Gumbs, Sahem Alkharabsheh, Katie J Lee, Alan Carter, Hannah Coleman, Niamh S O'Heneghan‐Yates, Rama Ijaz, Emma Beamish, Lisa A Menezes, Triantafillos Liloglou, Peter D Clegg, Elizabeth G. Canty‐Laird   +12 more
wiley   +1 more source

The Diversity of Fibrillin Functions: Lessons from the Periodontal Ligament

Cells
Marfan syndrome is caused by a mutation in the FBN1 gene encoding fibrillin-1. This extracellular matrix glycoprotein, which assembles into microfibrils, is best known for its scaffolding role in the production of elastic fibers responsible for ...
Elisabeth Genot, Tala Al Tabosh, Sylvain Catros, Florian Alonso, Damien Le Nihouannen   +4 more
doaj   +1 more source