-
1.
Low level of plasma fibulin-1 in patients with thyroid lesions: a case-control study and literature review.
Hedayati, M, Abooshahab, R, Razavi, SA, Salehipour, P, Ahmadikia, K, Boroomand, S
Molecular biology reports. 2020;(11):8859-8866
Abstract
Investigating novel biomarkers discriminating thyroid nodules is a matter of great importance for differential diagnosis. The current study was planned to investigate the diagnostic value of fibulin-1 in plasma specimens of patients with thyroid nodules. A literature review was also performed to gain an understanding of the existing research relevant to the main role of fibulin-1 in carcinogenesis. In this case-control study, the levels of plasma fibulin-1 were compared in 82 subjects including papillary thyroid cancer (PTC; n = 30), multinodular goiter (MNG; n = 30), and healthy subjects (n = 22) using enzyme-linked immunosorbent assay (ELISA). Fibulin-1 levels of patients with PTC and MNG were documented to be significantly lower than those of healthy subjects (PTC vs. Healthy; P = 0.000, MNG vs. Healthy; P = 0.000). No statistically significant differences were found between PTC and MNG groups when fibulin-1 levels were compared (P > 0.05). Low level of plasma fibulin-1 was associated with an increased risk of PTC tumorigenesis (odds ratio = 0.810; 95% CI: 0.704-0.933; P = 0.003). Further, fibulin-1 had an appropriate diagnostic value for detecting PTC patients with a sensitivity of 73.33%, and specificity of 100% at the cutoff value > 4.9 (ng/ml). According to the results of the present research which are tied well with previous studies, the abnormal downregulation of fibulin-1 may play a role in the PTC and MNG tumorigenesis. In addition, fibulin-1 probably promotes the development and progression of other human cancer; however, further studies are needed to improve current understandings.
-
2.
A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.
Vahidnezhad, H, Youssefian, L, Saeidian, AH, Mansoori, B, Jazayeri, A, Azizpour, A, Hesari, KK, Yousefi, M, Zeinali, S, Jouanguy, E, et al
The Journal of investigative dermatology. 2019;(5):1195-1198
-
3.
Secreted modular calcium-binding proteins in pathophysiological processes and embryonic development.
Gao, Q, Mok, HP, Zhuang, J
Chinese medical journal. 2019;(20):2476-2484
-
-
Free full text
-
Abstract
OBJECTIVE Secreted modular calcium-binding proteins (SMOCs) are extracellular glycoproteins of the secreted protein, acidic, and rich in cysteine-related modular calcium-binding protein family and include two isoforms, SMOC1 and SMOC2, in humans. Functionally, SMOCs bind to calcium for various cell functions. In this review, we provided a summary of the most recent advancements in and findings of SMOC1 and SMOC2 in development, homeostasis, and disease states. DATA SOURCES All publications in the PubMed database were searched and retrieved (up to July 24, 2019) using various combinations of keywords searching, including SMOC1, SMOC2, and diseases. STUDY SELECTION All original studies and review articles of SMOCs in human diseases and embryo development written in English were retrieved and included. RESULTS SMOC1 and SMOC2 regulate embryonic development, cell homeostasis, and disease pathophysiology. They play an important role in the regulation of cell cycle progression, cell attachment to the extracellular matrix, tissue fibrosis, calcification, angiogenesis, birth defects, and cancer development. CONCLUSIONS SMOC1 and SMOC2 are critical regulators of many cell biological processes and potential therapeutic targets for the control of human cancers and birth defects.
-
4.
Myoferlin, a multifunctional protein in normal cells, has novel and key roles in various cancers.
Zhu, W, Zhou, B, Zhao, C, Ba, Z, Xu, H, Yan, X, Liu, W, Zhu, B, Wang, L, Ren, C
Journal of cellular and molecular medicine. 2019;(11):7180-7189
-
-
Free full text
-
Abstract
Myoferlin, a protein of the ferlin family, has seven C2 domains and exhibits activity in some cells, including myoblasts and endothelial cells. Recently, myoferlin was identified as a promising target and biomarker in non-small-cell lung cancer, breast cancer, pancreatic adenocarcinoma, hepatocellular carcinoma, colon cancer, melanoma, oropharyngeal squamous cell carcinoma, head and neck squamous cell carcinoma, clear cell renal cell carcinoma and endometrioid carcinoma. This evidence indicated that myoferlin was involved in the proliferation, invasion and migration of tumour cells, the mechanism of which mainly included promoting angiogenesis, vasculogenic mimicry, energy metabolism reprogramming, epithelial-mesenchymal transition and modulating exosomes. The roles of myoferlin in both normal cells and cancer cells are of great significance to provide novel and efficient methods of tumour treatment. In this review, we summarize recent studies and findings of myoferlin and suggest that myoferlin is a novel potential candidate for clinical diagnosis and targeted cancer therapy.
-
5.
Calcium- and calmodulin-regulated microtubule-associated proteins as signal-integration hubs at the plasma membrane-cytoskeleton nexus.
Kölling, M, Kumari, P, Bürstenbinder, K
Journal of experimental botany. 2019;(2):387-396
Abstract
Plant growth and development are a genetically predetermined series of events but can change dramatically in response to environmental stimuli, involving perpetual pattern formation and reprogramming of development. The rate of growth is determined by cell division and subsequent cell expansion, which are restricted and controlled by the cell wall-plasma membrane-cytoskeleton continuum, and are coordinated by intricate networks that facilitate intra- and intercellular communication. An essential role in cellular signaling is played by calcium ions, which act as universal second messengers that transduce, integrate, and multiply incoming signals during numerous plant growth processes, in part by regulation of the microtubule cytoskeleton. In this review, we highlight recent advances in the understanding of calcium-mediated regulation of microtubule-associated proteins, their function at the microtubule cytoskeleton, and their potential role as hubs in crosstalk with other signaling pathways.
-
6.
Dentin dysplasia type I-A dental disease with genetic heterogeneity.
Chen, D, Li, X, Lu, F, Wang, Y, Xiong, F, Li, Q
Oral diseases. 2019;(2):439-446
-
-
Free full text
-
Abstract
Hereditary dentin disorders include dentinogenesis imperfecta (DGI) and dentin dysplasia (DD), which are autosomal dominant diseases characterized by altered dentin structure such as abnormality in dentin mineralization and the absence of root dentin. Shields classified DGI into three subgroups and DD into two subtypes. Although they are all hereditary dentin diseases, they do not share the same causative genes. To date, the pathogenic genes of DGI type I, which is considered a clinical manifestation of syndrome osteogenesis imperfecta, include COL1A1 and COL1A2. Mutations of the DSPP gene, which encodes the dentin sialophosphoprotein, a major non-collagenous protein, are responsible for three isolated dentinal diseases: DGI-II, DGI-III, and DD-II. However, DD-I appears to be special in that researchers have found three pathogenicity genes-VPS4B, SSUH2, and SMOC2-in three affected families from different countries. It is believed that DD-I is a genetically heterogeneous disease and is distinguished from other types of dentin disorders. This review summarizes the DD-I literature in the context of clinical appearances, radiographic characteristics, and functions of its pathogenic genes and aims to serve clinicians in further understanding and diagnosing this disease.
-
7.
Vitamin K-Dependent Matrix Gla Protein as Multifaceted Protector of Vascular and Tissue Integrity.
Wei, FF, Trenson, S, Verhamme, P, Vermeer, C, Staessen, JA
Hypertension (Dallas, Tex. : 1979). 2019;(6):1160-1169
-
-
Free full text
-
Abstract
Supplemental Digital Content is available in the text.
-
8.
DLK1, Notch Signaling and the Timing of Puberty.
Macedo, DB, Kaiser, UB
Seminars in reproductive medicine. 2019;(4):174-181
-
-
Free full text
-
Abstract
The factors that trigger human puberty are among the central mysteries of reproductive biology. Several approaches, including mutational analysis of candidate genes, large-scale genome-wide association studies, whole exome sequencing, and whole genome sequencing have been performed in attempts to identify novel genetic factors that modulate the human hypothalamic-pituitary-gonadal axis to result in premature sexual development. Genetic abnormalities involving excitatory and inhibitory pathways regulating gonadotropin-releasing hormone secretion, represented by the kisspeptin (KISS1 and KISS1R) and makorin ring finger 3 (MKRN3) systems, respectively, have been associated with sporadic and familial cases of central precocious puberty (CPP). More recently, paternally inherited genetic defects of DLK1 were identified in four families with nonsyndromic CPP and a metabolic phenotype. DLK1 encodes a transmembrane protein that is important for adipose tissue homeostasis and neurogenesis and is located in the imprinted chromosome 14q32 region associated with Temple syndrome. In this review, we highlight the clinical and genetic features of patients with CPP caused by DLK1 mutations and explore the involvement of Notch signaling and DLK1 in the control of pubertal onset.
-
9.
Current treatment for citrin deficiency during NICCD and adaptation/compensation stages: Strategy to prevent CTLN2.
Okano, Y, Ohura, T, Sakamoto, O, Inui, A
Molecular genetics and metabolism. 2019;(3):175-183
Abstract
Identification of the genes responsible for adult-onset type II citrullinemia (CTLN2) and citrin protein function have enhanced our understanding of citrin deficiency. Citrin deficiency is characterized by 1) neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD); 2) adaptation/compensation stage with unique food preference from childhood to adulthood; and 3) CTLN2. The treatment of NICCD aims to prevent the progression of cholestasis, and it includes medium chain triglycerides (MCT) milk and lactose-free milk, in addition to medications (e.g., vitamin K2, lipid-soluble vitamins and ursodeoxycholic acid). Spontaneous remission around the age of one is common in NICCD, though prolonged cholestasis can lead to irreversible liver failure and may require liver transplantation. The adaptation/compensation stage (after one year of age) is characterized by the various signs and symptoms such as hypoglycemia, fatty liver, easy fatigability, weight loss, and neuropsychiatric symptoms. Some poorly-controlled patients show failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD). Diet therapy is the key in the adaptation/compensation stage. Protein- and fat-rich diet with a protein: fat: carbohydrate ratio being 15-25%: 40-50%: 30-40% along with the appropriate energy intake is recommended. The use of MCT oil and sodium pyruvate is also effective. The toxicity of carbohydrate is well known in the progression to CTLN2 if the consumption is over a long term or intense. Alcohol can also trigger CTLN2. Continuous intravenous hyperalimentation with high glucose concentration needs to be avoided. Administration of Glyceol® (an osmotic agent containing glycerol and fructose) is contraindicated. Because the intense treatment such as liver transplantation may become necessary to cure CTLN2, the effective preventative treatment during the adaptation/compensation stage is very important. At present, there is no report of a case with patients reported having the onset of CTLN2 who are on the diet therapy and under the appropriate medical support during the adaptation/compensation stage.
-
10.
[About the prognostic role of fibulin-5 protein in the progression of pathological vascular remodeling in patients with isolated sistolic arterial hypertension.].
Kartashova, EA, Sarvilina, IV
Advances in gerontology = Uspekhi gerontologii. 2019;(6):1003-1010
Abstract
Today, arterial hypertension (AH) is often associated with accelerated aging. In the structure of AH in persons over 65 years of age, the most common form is isolated systolic hypertension (ISAH), the mechanisms of development of which remain unexplained. Molecular regulation of remodeling of smooth muscle cells of vessels, changes in which, along with perivascular fibrosis and endothelial dysfunction, lead to increased sensitivity to procontractile mediators and calcification, forms the basis of mechanisms of vascular aging and rigidity. Clinically, this process is manifested in ISAH in individuals of an early period of old age and senile age. The search for new diagnostic molecular markers and the development of pharmacological correction of mechanisms of vascular wall aging in ISAH is an urgent and timely task. The review presents an analysis of current data from medical literature about the participation of fibulin-5 protein in the process of elastogenesis in the vascular wall, as well as in molecular pathological pathways of inflammation and aging of the vascular wall in ISAH. The role of multifunctional signal molecule fibulin-5 in the age-related loss of elasticity of the vascular wall is shown. Presented is the perspective of creating a drug from the group of senolitics based on fibulin-5 molecule, as well as modern application possibilities for preventing aging of the vascular wall of the drug Cytoflavin (active ingredients in 1 ml of solution: succinic acid, 100 mg; nicotinamide, 10 mg; riboxin, 20 mg riboflavin mononucleotide, 2 mg).