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bardet biedl syndrom

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https://www.readbyqxmd.com/read/30073714/early-prenatal-detection-of-bardet-biedl-syndrome-in-a-case-with-postaxial-polydactyly-and-hyperechoic-kidneys-confirmed-by-next-generation-sequencing
#1
Qiao-Yi Li, Lv-Ying Huang, Dong-Zhi Li
Bardet-Biedl syndrome (BBS) is a rare multi-systemic disorder, characterized mainly by obesity, diabetes, retinal dystrophy, postaxial polydactyly, cognitive impairment, genitourinary malformations, and renal abnormalities (Beales. 2005). The clinical diagnosis is usually made during childhood or even adulthood due to the late onset of diagnostic criteria. This article is protected by copyright. All rights reserved.
August 3, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/30062583/functions-and-dysfunctions-of-the-mammalian-centrosome-in-health-disorders-disease-and-aging
#2
REVIEW
Heide Schatten, Qing-Yuan Sun
Since its discovery well over 100 years ago (Flemming, in Sitzungsber Akad Wissensch Wien 71:81-147, 1875; Van Beneden, in Bull Acad R Belg 42:35-97, 1876) the centrosome is increasingly being recognized as a most impactful organelle for its role not only as primary microtubule organizing center (MTOC) but also as a major communication center for signal transduction pathways and as a center for proteolytic activities. Its significance for cell cycle regulation has been well studied and we now also know that centrosome dysfunctions are implicated in numerous diseases and disorders including cancer, Alstrom syndrome, Bardet-Biedl syndrome, Huntington's disease, reproductive disorders, and several other diseases and disorders...
July 30, 2018: Histochemistry and Cell Biology
https://www.readbyqxmd.com/read/29971011/osteoarthritis-like-changes-in-bardet-biedl-syndrome-mutant-ciliopathy-mice-bbs1-m-390-r-m-390-r-evidence-for-a-role-of-primary-cilia-in-cartilage-homeostasis-and-regulation-of-inflammation
#3
Isaac D Sheffield, Mercedes A McGee, Steven J Glenn, Da Young Baek, Joshua M Coleman, Bradley K Dorius, Channing Williams, Brandon J Rose, Anthony E Sanchez, Michael A Goodman, John M Daines, Dennis L Eggett, Val C Sheffield, Arminda Suli, David L Kooyman
Osteoarthritis (OA) is a debilitating inflammation related disease characterized by joint pain and effusion, loss of mobility, and deformity that may result in functional joint failure and significant impact on quality of life. Once thought of as a simple "wear and tear" disease, it is now widely recognized that OA has a considerable metabolic component and is related to chronic inflammation. Defects associated with primary cilia have been shown to be cause OA-like changes in Bardet-Biedl mice. We examined the role of dysfunctional primary cilia in OA in mice through the regulation of the previously identified degradative and pro-inflammatory molecular pathways common to OA...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29866251/a-newborn-with-rare-mckusick-syndrome
#4
Alia Halim, Tehreem Afzal, Sana Fatima, Sadia Riaz
McKusick-Kaufman Syndrome (MKKS) is one of rare syndromes which presents as polydactyly, hydrometrocolpos (HMC) and cardiac anomalies. This autosomal recessive disorder occurs due to mutations in MKKS gene. It is characterised predominantly by genitourinary and digit abnormalities. The diagnosis can be made on clinical findings; however, it is important to rule out Bardet-Biedl syndrome before making the definitive diagnosis. Treatment of MKKS revolves around treatment of its manifestations and complications...
June 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29806606/screening-for-mutation-hotspots-in-bardet-biedl-syndrome-patients-from-india
#5
Sathya Priya Chandrasekar, Sheela Namboothiri, Parveen Sen, Sripriya Sarangapani
Background & objectives: Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder characterized by multiple organ defects involving retina, kidney, liver and brain. Disease-causing mutations in BBS genes narrowed down by homozygosity mapping in small consanguineous and non-consanguineous pedigrees were reported in 80 per cent of the study population. This study was aimed to screen these genes (BBS3, BBS10) and specific exons of BBS genes (BBS1, BBS5, MKKS, BBS9, BBS11 and BBS12) for recurrent mutations in a selected sample of BBS patients...
February 2018: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29754569/toward-personalized-medicine-in-bardet-biedl-syndrome
#6
Joanna Kenny, Elizabeth Forsythe, Philip Beales, Chiara Bacchelli
Personalized medicine is becoming routine in the treatment of common diseases such as cancer, but has lagged behind in the field of rare diseases. It is currently in the early stages for the treatment of Bardet-Biedl syndrome. Advances in the understanding of ciliary biology and diagnostic techniques have opened up the prospect of treating BBS in a patient-specific manner. Owing to their structure and function, cilia provide an attractive therapeutic target and genetic therapies are being explored in ciliopathy treatment...
September 2017: Personalized Medicine
https://www.readbyqxmd.com/read/29704304/loss-of-function-ift27-variants-associated-with-an-unclassified-lethal-fetal-ciliopathy-with-renal-agenesis
#7
Chloé Quélin, Philippe Loget, Lucile Boutaud, Nadia Elkhartoufi, Joelle Milon, Sylvie Odent, Mélanie Fradin, Florence Demurger, Laurent Pasquier, Sophie Thomas, Tania Attié-Bitach
Ciliopathies comprise a group of clinically heterogeneous and overlapping disorders with a wide spectrum of phenotypes ranging from prenatal lethality to adult-onset disorders. Pathogenic variants in more than 100 ciliary protein-encoding genes have been described, most notably those involved in intraflagellar transport (IFT) which comprises two protein complexes, responsible for retrograde (IFT-A) and anterograde transport (IFT-B). Here we describe a fetus with an unclassified severe ciliopathy phenotype including short ribs, polydactyly, bilateral renal agenesis, and imperforate anus, with compound heterozygosity for c...
April 27, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29700824/clinical-molecular-genetics-and-therapeutic-aspects-of-syndromic-obesity
#8
REVIEW
E Geets, M E C Meuwissen, W Van Hul
Obesity has become a major health problem worldwide. To date, more than 25 different syndromic forms of obesity are known in which one (monogenic) or multiple (polygenic) genes are involved. This review gives an overview of these forms and focuses more in detail on 6 syndromes: Prader Willi Syndrome and Prader Willi like phenotype, Bardet Biedl Syndrome, Alström Syndrome, Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation syndrome and 16p11.2 (micro)deletions. Years of research provided plenty of information on the molecular genetics of these disorders and the obesity phenotype leading to a more individualized treatment of the symptoms, however, many questions still remain unanswered...
April 26, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29688594/whole-genome-sequencing-in-patients-with-ciliopathies-uncovers-a-novel-recurrent-tandem-duplication-in-ift140
#9
Véronique Geoffroy, Corinne Stoetzel, Sophie Scheidecker, Elise Schaefer, Isabelle Perrault, Séverine Bär, Ariane Kröll, Marion Delbarre, Manuela Antin, Anne-Sophie Leuvrey, Charline Henry, Hélène Blanché, Eva Decker, Katja Kloth, Günter Klaus, Christoph Mache, Dominique Martin-Coignard, Steven McGinn, Anne Boland, Jean-François Deleuze, Sylvie Friant, Sophie Saunier, Jean-Michel Rozet, Carsten Bergmann, Hélène Dollfus, Jean Muller
Ciliopathies represent a wide spectrum of rare diseases with overlapping phenotypes and a high genetic heterogeneity. Among those, IFT140 is implicated in a variety of phenotypes ranging from isolated retinis pigmentosa to more syndromic cases. Using whole-genome sequencing in patients with uncharacterized ciliopathies, we identified a novel recurrent tandem duplication of exon 27-30 (6.7 kb) in IFT140, c.3454-488_4182+2588dup p.(Tyr1152_Thr1394dup), missed by whole-exome sequencing. Pathogenicity of the mutation was assessed on the patients' skin fibroblasts...
July 2018: Human Mutation
https://www.readbyqxmd.com/read/29676541/primary-cilia-as-a-signaling-platform-for-control-of-energy-metabolism
#10
REVIEW
Do Kyeong Song, Jong Han Choi, Min Seon Kim
Obesity has become a common healthcare problem worldwide. Cilia are tiny hair-like organelles on the cell surface that are generated and anchored by the basal body. Non-motile primary cilia have been considered to be evolutionary rudiments until a few decades, but they are now considered as important signaling organelles because many receptors, channels, and signaling molecules are highly expressed in primary cilia. A potential role of primary cilia in metabolic regulation and body weight maintenance has been suspected based on rare genetic disorders termed as ciliopathy, such as Bardet-Biedl syndrome and Alström syndrome, which manifest as obesity...
April 2018: Diabetes & Metabolism Journal
https://www.readbyqxmd.com/read/29674126/bbs9-gene-in-nonsyndromic-craniosynostosis-role-of-the-primary-cilium-in-the-aberrant-ossification-of-the-suture-osteogenic-niche
#11
Marta Barba, Lorena Di Pietro, Luca Massimi, Maria Concetta Geloso, Paolo Frassanito, Massimo Caldarelli, Fabrizio Michetti, Stefano Della Longa, Paul A Romitti, Concezio Di Rocco, Alessandro Arcovito, Ornella Parolini, Gianpiero Tamburrini, Camilla Bernardini, Simeon A Boyadjiev, Wanda Lattanzi
Nonsyndromic craniosynostosis (NCS) is the premature ossification of skull sutures, without associated clinical features. Mutations in several genes account for a small number of NCS patients; thus, the molecular etiopathogenesis of NCS remains largely unclear. Our study aimed at characterizing the molecular signaling implicated in the aberrant ossification of sutures in NCS patients. Comparative gene expression profiling of NCS patient sutures identified a fused suture-specific signature, including 17 genes involved in primary cilium signaling and assembly...
July 2018: Bone
https://www.readbyqxmd.com/read/29668472/obesity-in-childhood-and-adolescence-genetic-factors
#12
Marko Kostovski, Velibor Tasic, Nevena Laban, Momir Polenakovic, Dragan Danilovski, Zoran Gucev
Obesity and excess weight are a pandemic phenomenon in the modern world. Childhood and adolescent obesity often ends up in obesity in adults. The costs of obesity and its consequences are staggering for any society, crippling for countries in development. Childhood obesity is also widespread in Macedonia. Metabolic syndrome, dyslipidemia and carbohydrate intolerance are found in significant numbers. Parents and grandparents are often obese. Some of the children are either dysmorphic, or slightly retarded. We have already described patients with Prader-Willi syndrome, Bardet-Biedl syndrome or WAGR syndrome...
December 1, 2017: Prilozi (Makedonska Akademija Na Naukite i Umetnostite. Oddelenie za Medicinski Nauki)
https://www.readbyqxmd.com/read/29666954/clinical-characteristics-of-a-japanese-patient-with-bardet-biedl-syndrome-caused-by-bbs10-mutations
#13
Kentaro Kurata, Katsuhiro Hosono, Akiko Hikoya, Akihiko Kato, Hirotomo Saitsu, Shinsei Minoshima, Tsutomu Ogata, Yoshihiro Hotta
PURPOSE: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by retinal dystrophy, renal dysfunction, central obesity, mental impairment, polydactyly, and hypogonadism. Only limited information on BBS is available from Japanese patients. In addition, there are currently no reports of Japanese patients with BBS caused by BBS10 mutations. The purpose of this study was to present the characteristics of a Japanese patient with BBS caused by BBS10 mutations. PATIENT AND METHODS: The patient was a 22-year-old Japanese woman...
July 2018: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29653013/-progress-of-research-on-bardet-biedl-syndrome
#14
Peng Zeng, Tao Shen
Bardet-Biedl syndrome (BBS) is a rare genetic disease caused by ciliary structure abnormality or dysfunction. To date, more than 21 BBS genes (BBS1 - 21) have been reported to independently cause the disorder. Although the cellular functions of BBS proteins are not yet fully understood, model organisms have revealed that such proteins are involved in ciliary functions and intracellular transport. Among the 21 BBS genes, BBS7 is unique in that its product is a subunit of the BBSome and can directly interact with the BBS chaperonin complex...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29603519/comparison-of-two-different-culture-conditions-for-derivation-of-early-hipsc
#15
Caroline A B Hey, Katarina B Saltõkova, Hanne C Bisgaard, Lisbeth B Møller
Different culture-systems for derivation of induced pluripotent stem cells (iPSC) in vitro from human fibroblasts have been established. Here, we compared the efficacy of two different feeder-free culture-systems; Matrigel-coated surfaces in combination with mTeSR1 medium versus Vitronectin-coated surfaces in combination with Essential 8 (E8) medium. The comparison was performed by counting the number of emerging iPSC-looking colonies of re-programmed fibroblasts. The fibroblasts were re-programmed using episomal plasmids expressing OCT3/4, SOX2, KLF4, L-MYC, LIN28, and a p53 knock down shP53...
March 30, 2018: Cell Biology International
https://www.readbyqxmd.com/read/29590217/bbs1-is-involved-in-retrograde-trafficking-of-ciliary-gpcrs-in-the-context-of-the-bbsome-complex
#16
Shohei Nozaki, Yohei Katoh, Takuya Kobayashi, Kazuhisa Nakayama
Protein trafficking within cilia is mediated by the intraflagellar transport (IFT) machinery composed of large protein complexes. The BBSome consists of eight BBS proteins encoded by causative genes of Bardet-Biedl syndrome (BBS), and has been implicated in the trafficking of ciliary membrane proteins, including G protein-coupled receptors (GPCRs), by connecting the IFT machinery to cargo GPCRs. Membrane recruitment of the BBSome to promote cargo trafficking has been proposed to be regulated by the Arf-like small GTPase ARL6/BBS3, through its interaction with the BBS1 subunit of the BBSome...
2018: PloS One
https://www.readbyqxmd.com/read/29539623/urine-proteomics-revealed-a-significant-correlation-between-urine-fibronectin-abundance-and-estimated-gfr-decline-in-patients-with-bardet-biedl-syndrome
#17
Marianna Caterino, Miriam Zacchia, Michele Costanzo, Giuliana Bruno, Davide Arcaniolo, Francesco Trepiccione, Rosa Anna Siciliano, Maria Fiorella Mazzeo, Margherita Ruoppolo, Giovambattista Capasso
BACKGROUND: /Aims: Renal disease is a common cause of morbidity in patients with Bardet-Biedl syndrome (BBS), however the severity of kidney dysfunction is highly variable. To date, there is little information on the pathogenesis, the risk and predictor factors for poor renal outcome in this setting. The present study aims to analyze the spectrum of urinary proteins in BBS patients, in order to potentially identify 1) disease-specific proteomic profiles that may differentiate the patients from normal subjects; 2) urinary markers of renal dysfunction...
2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29534263/-ciliopathies
#18
Christina Gerth-Kahlert, Samuel Koller
Ciliopathies are disorders caused by ciliary dysfunction and can affect an organ system or tissues. Isolated or syndromic retinal dystrophies are the most common ocular manifestation of ciliopathies. The photoreceptor connecting cilium plays a leading role in these ciliopathy-related retinal dystrophies. Dysfunctional photoreceptor cilia cause the most severe type of retinal dystrophy: Leber's congenital amaurosis (LCA). The most common syndromic ciliopathies with an ocular manifestation are Bardet-Biedl syndrome (BBS) and Usher syndrome...
March 2018: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29500869/pediatric-laparoscopic-sleeve-gastrectomy-in-turkey-short-term-results
#19
Ufuk Ates, Ergun Ergun, Gulnur Gollu, Sumeyye Sozduyar, Ozlem Selvi Can, Aydin Yagmurlu
BACKGROUND: Obesity is one of the most rapidly increasing health problems in children. Laparoscopic sleeve gastrectomy (LSG) is one of the best treatment options and is feasible and safe in children. The aim of this study was to present the short-term results of a laparoscopic sleeve gastrectomy series in children. METHODS: Children who underwent LSG in 2014-2017 were included in the study. Charts were investigated retrospectively and short-term weight loss was analyzed...
May 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29497606/network-for-early-onset-cystic-kidney-diseases-a-comprehensive-multidisciplinary-approach-to-hereditary-cystic-kidney-diseases-in-childhood
#20
Jens Christian König, Andrea Titieni, Martin Konrad
Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet-Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype-phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases...
2018: Frontiers in Pediatrics
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