Results 21 to 30 of about 240,041 (144)
A patient with pleuroparenchymal fibroelastosis carrying a novel fibrillin-2 gene variant [PDF]
Respiratory Medicine Case Reports, 2023 Pleuroparenchymal fibroelastosis is a recently recognized clinical entity characterized by interstitial pneumonia with proliferating elastin in the upper lung regions. Pleuroparenchymal fibroelastosis is categorized as idiopathic or reported depending on
Kouko Hidaka +7 more
doaj +2 more sources
Clinical Features of Congenital Contractural Arachnodactyly
Congenital Anomalies (discontinued), 1993 ABSTRACT Clinical features of 11 cases of congenital contractural arachnodactyly (CCA) were reported. Eight cases were male and 3 cases were female. Family history was positive in 6 cases of 3 families. As for hand deformity, flexion of the finger, adduction of the thumb and shortening of the palmar skin were observed in all cases, arachnodactyly in ...
Toshihiko OGINO +3 more
exaly +3 more sources
Possible break-down of redox homeostasis in Beals-Hecht syndrome [PDF]
Scientific ReportsBeals-Hecht (BH) syndrome is a rare autosomal dominant disorder caused by a mutation of the FBN-2 gene that codifies for fibrillin-2 (FBN-2). Its nosology includes congenital contractural arachnodactyly. The aim of this study was to evaluate the possible
María Elena Soto +3 more
doaj +2 more sources
Transient Cardiomyopathy in a Patient with Congenital Contractural Arachnodactyly (Beals Syndrome)
Journal of Nippon Medical School, 2006 We report on an infant with Beals syndrome (congenital contractural arachnodactyly [CCA], MIM 121050) with transient cardiomyopathy showing ballon-like dilatation of the left ventricle that was similar to noncompaction. The patients father and two of his brothers were also found to have CCA without cardiovascular complications.
Atsushi Watanabe +2 more
exaly +4 more sources
IET Systems Biology, Volume 17, Issue 4, Page 162-173, August 2023., 2023 We systematically investigated the effects and mechanisms of FBN2 on BLCA and provided a new understanding of the role of FBN2 as a risk factor and TME influencer in BLCA. Abstract Bladder cancer (BLCA) is a common and difficult‐to‐manage disease worldwide. Most common type of BLCA is urothelial carcinoma (UC).
Zechao Lu +12 more
wiley +1 more source
Congenital Contractural Arachnodactyly (Beals-Hecht Syndrome): A Case Report
Haseki Tıp Bülteni, 2011 Ali Karaman, Hasan Kahveci
doaj +1 more source
Role of fibrilins in human cancer: A narrative review
Health Science Reports, Volume 6, Issue 7, July 2023., 2023 Abstract Background Fibrillin is one of the extracellular matrix glycoproteins and participates in forming microfibrils found in many connective tissues. The microfibrils enable the elasticity and stretching properties of the ligaments and support connective tissues.
Mahsa Mahdizadehi +3 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 7, July 2023., 2023 Cardiovascular manifestation is a known phenomenon among Marfan patients. Several genotype–phenotype studies have been performed to find association between cardiovascular disease severity and FBN1 gene mutations. However, these studies focused on intragenic small‐scale mutations, and until now no study was performed to explore the connection between ...
Gergely Buki +6 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 11, Issue 6, June 2023., 2023 Abstract Background Congenital anomalies (CAs) with or without intellectual disability (ID)/developmental delay (DD) comprise a heterogeneous spectrum of diseases that affect approximately 3% of live births worldwide. Recently, whole‐exome sequencing (WES) demonstrated the highly heterogeneous genetic causes of CAs.
Rai‐Hseng Hsu +8 more
wiley +1 more source