keyword
MENU ▼
Read by QxMD icon Read
search

bardet biedl syndrom

keyword
https://read.qxmd.com/read/30761183/identification-and-characterization-of-known-biallelic-mutations-in-the-ift27-bbs19-gene-in-a-novel-family-with-bardet-biedl-syndrome
#1
Elise Schaefer, Clarisse Delvallée, Laura Mary, Corinne Stoetzel, Véronique Geoffroy, Caroline Marks-Delesalle, Muriel Holder-Espinasse, Jamal Ghoumid, Hélène Dollfus, Jean Muller
Bardet-Biedl syndrome (BBS; MIM 209900) is a rare ciliopathy characterized by retinitis pigmentosa, postaxial polydactyly, obesity, hypogonadism, cognitive impairment and kidney dysfunction. Mutations in 22 BBS genes have been identified to cause the disease. We report a family with typical BBS features (retinitis pigmentosa, postaxial polydactyly, obesity, cognitive impairment, and atrioventricular septal defect) mutated in IFT27/BBS19 . IFT27 is part of the Intraflagellar transport (IFT), a bidirectional mechanism allowing the protein motility within the cilia...
2019: Frontiers in Genetics
https://read.qxmd.com/read/30756542/-bardet-biedl-syndrome-protein-8-is-involved-in-flagellar-membrane-protein-transport-in-chlamydomonas-reinhardtii
#2
Lin Sun, Junmin Pan
Cilia and flagella on eukaryotic cells are polarized organelles extending from the surfaces of cells, which participate not only in cell motility, but also in signal transduction and other processes. Structural or functional abnormalities of cilia can cause various human diseases, termed ciliopathies. Bardet-Biedl syndrome (BBS) is a ciliopathic human genetic disorder, and the pathogenesis is that mutated BBS genes result in abnormal cilia function. In order to study the pathogenic genes BBS8, we screened bbs8 mutant in Chlamydomonas reinhardtii and did a lot of physiology and biochemistry experiments...
January 25, 2019: Sheng Wu Gong Cheng Xue Bao, Chinese Journal of Biotechnology
https://read.qxmd.com/read/30723319/scaper-localizes-to-primary-cilia-and-its-mutation-affects-cilia-length-causing-bardet-biedl-syndrome
#3
Ohad Wormser, Libe Gradstein, Yuval Yogev, Yonatan Perez, Rotem Kadir, Inna Goliand, Yair Sadka, Saad El Riati, Hagit Flusser, Dikla Nachmias, Ruth Birk, Muhamad Iraqi, Einat Kadar, Roni Gat, Max Drabkin, Daniel Halperin, Amir Horev, Sara Sivan, Uri Abdu, Natalie Elia, Ohad S Birk
Studies of ciliopathies have served in elucidating much of our knowledge of structure and function of primary cilia. We report humans with Bardet-Biedl syndrome who display intellectual disability, retinitis pigmentosa, obesity, short stature and brachydactyly, stemming from a homozyogous truncation mutation in SCAPER, a gene previously associated with mitotic progression. Our findings, based on linkage analysis and exome sequencing studies of two remotely related large consanguineous families, are in line with recent reports of SCAPER variants associated with intellectual disability and retinitis pigmentosa...
February 5, 2019: European Journal of Human Genetics: EJHG
https://read.qxmd.com/read/30614526/bardet-biedl-syndrome-tantenatal-presentation-of-45-fetuses-with-biallelic-pathogenic-variants-in-known-bbs-genes
#4
L Mary, K Chennen, C Stoetzel, M Antin, A S Leuvrey, E Nourisson, E Alanio-Detton, M C Antal, T Attie-Bitach, P Bouvagnet, R Bouvier, A Buenerd, A Clémenson, L Devisme, B Gasser, B Gilbert-Dussardier, F Guimiot, P Khau Van Kien, B Leroy, P Loget, J Martinovic, F Pelluard, M J Perez, F Petit, L Pinson, C Rooryck, O Poch, H Dollfus, E Schaefer, J Muller
Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Molecular diagnosis during pregnancies remains a timely challenge for this heterogeneous disease (22 known genes)...
January 7, 2019: Clinical Genetics
https://read.qxmd.com/read/30587384/protein-profile-of-dabry-s-sturgeon-acipenser-dabryanus-spermatozoa-and-relationship-to-sperm-quality
#5
Ping Li, Hao Du, Xin Mei Qiao, Zhi Gang Liu, Qiong Zhou, Qi Wei Wei
Knowledge of conditions affecting sperm quality is essential for efficient culture of fish for commercial purposes and conservation of species. Two-dimensional gel electrophoresis and matrix-assisted laser desorption/ionization time of flight mass spectrometry were used to characterize the proteomic profile of Acipenser dabryanus spermatozoa relative to motility and fertilization capacity. There were differential amounts of protein in 313 spots in spermatozoa of males classified to have relatively greater or lesser spermatozoa quality...
February 2019: Animal Reproduction Science
https://read.qxmd.com/read/30578506/ciliopathy-bardet-biedl-syndrome
#6
Stephen H Tsang, Alicia R P Aycinena, Tarun Sharma
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with a prevalence of about 1/125,000. The syndrome involves mixed rod-cone dystrophy (which becomes obvious by 6 years of age). About two thirds of patients have postaxial polydactyly, and sometimes syndactyly, brachydactyly, and/or clinodactyly may be present. Hypogonadism and renal involvement occur in about 40%, mental retardation in about 50%, and truncal obesity in about 70%; it is present early, along with insulin resistance, type 2 diabetes, dyslipidemia, and hypertension...
2018: Advances in Experimental Medicine and Biology
https://read.qxmd.com/read/30484961/retrotransposon-insertion-as-a-novel-mutational-event-in-bardet-biedl-syndrome
#7
Erika Tavares, Chen Yu Tang, Anjali Vig, Shuning Li, Gail Billingsley, Wilson Sung, Ajoy Vincent, Bhooma Thiruvahindrapuram, Elise Héon
BACKGROUND: Bardet-Biedl syndrome (BBS) is an autosomal recessive pleiotropic disorder of the primary cilia that leads to severe visual loss in the teenage years. Approximately 80% of BBS cases are explained by mutations in one of the 21 identified genes. Documented causative mutation types include missense, nonsense, copy number variation (CNV), frameshift deletions or insertions, and splicing variants. METHODS: Whole genome sequencing was performed on a patient affected with BBS for whom no mutations were identified using clinically approved genetic testing of the known genes...
November 28, 2018: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/30446775/bardet-biedl-syndrome-proteins-regulate-cilia-disassembly-during-tissue-maturation
#8
Sarita Rani Patnaik, Viola Kretschmer, Lena Brücker, Sandra Schneider, Ann-Kathrin Volz, Liliana Del Rocio Oancea-Castillo, Helen Louise May-Simera
Primary cilia are conserved organelles that mediate cellular communication crucial for organogenesis and homeostasis in numerous tissues. The retinal pigment epithelium (RPE) is a ciliated monolayer in the eye that borders the retina and is vital for visual function. Maturation of the RPE is absolutely critical for visual function and the role of the primary cilium in this process has been largely ignored to date. We show that primary cilia are transiently present during RPE development and that as the RPE matures, primary cilia retract, and gene expression of ciliary disassembly components decline...
November 16, 2018: Cellular and Molecular Life Sciences: CMLS
https://read.qxmd.com/read/30423168/lztfl1-bbs17-controls-energy-homeostasis-by-regulating-the-leptin-signaling-in-the-hypothalamic-neurons
#9
Qun Wei, Yi-Feng Gu, Qing-Jun Zhang, Helena Yu, Yan Peng, Kevin W Williams, Ruitao Wang, Kajiang Yu, Tiemin Liu, Zhi-Ping Liu
Leptin receptor (LepRb) signaling pathway in the hypothalamus of the forebrain controls food intake and energy expenditure in response to an altered energy state. Defects in the LepRb signaling pathway can result in leptin-resistance and obesity. Leucine zipper transcription factor like 1 (Lztfl1)/BBS17 is a member of the Bardet-Biedl syndrome (BBS) gene family. Human BBS patients have a wide range of pathologies including obesity. The cellular and molecular mechanisms underlying Lztfl1-regulated obesity are unknown...
October 1, 2018: Journal of Molecular Cell Biology
https://read.qxmd.com/read/30401917/clinical-spectrum-of-male-patients-with-ofd1-mutations
#10
Nana Sakakibara, Naoya Morisada, Kandai Nozu, Koji Nagatani, Toshiyuki Ohta, Junya Shimizu, Takuzo Wada, Yuko Shima, Tomohiko Yamamura, Shogo Minamikawa, Junya Fujimura, Tomoko Horinouchi, China Nagano, Akemi Shono, Ming Juan Ye, Yoshimi Nozu, Koichi Nakanishi, Kazumoto Iijima
Oral-facial-digital syndrome type 1 (OFD1) is a ciliopathy characterized by oral, facial, and digital malformations that are often accompanied by polycystic lesion of the kidney and central nervous involvement. OFD1 shows an X-linked recessive inheritance caused by mutation in the OFD1 gene (Xp22.2). The disease is generally considered embryonic lethal for hemizygous males. However, males with OFD1 mutations were recently reported. Here, we report four additional Japanese male patients with OFD1 variants and describe the variable clinical manifestation and disease severity among the four patients...
November 6, 2018: Journal of Human Genetics
https://read.qxmd.com/read/30335236/a-pathogenic-homozygous-variant-of-the-bbs10-gene-in-a-patient-with-bardet-biedl-syndrome
#11
Luz Yaqueline Ladino, Johanna Galvis, Diana Yasnó, Adriana Ramírez, Orietta Ivonne Beltrán
The Bardet-Biedl syndrome is an autosomal recessive hereditary disorder with vast locus heterogeneity that belongs to the so-called ciliopathies, whose proteins are localized in the primary cilia and present functional deficiency. The multisystemic features of the disease include ocular, renal, cognitive, skeletal, as well as gonadal involvement and obesity, among others, with high inter- and intrafamilial variability. We describe the clinical case of an adolescent male patient with Bardet-Biedl syndrome, including the approach, the results from a 22-gene sequencing panel, and the analysis of updated scientific literature...
September 1, 2018: Biomédica: Revista del Instituto Nacional de Salud
https://read.qxmd.com/read/30312873/generation-of-induced-pluripotent-stem-cells-kci002-a-derived-from-a-patient-with-bardet-biedl-syndrome-homozygous-for-the-bbs10-variant-c-271inst
#12
Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10. Resource table.
September 20, 2018: Stem Cell Research
https://read.qxmd.com/read/30293640/thoraco-abdominal-abnormalities-in-bardet-biedl-syndrome-situs-inversus-and-heterotaxy
#13
Andrew J Olson, Anthony D Krentz, Kathleen M Finta, Uzoma C Okorie, Robert M Haws
OBJECTIVES: To characterize the diversity and prevalence of thoraco-abdominal abnormalities in Bardet-Biedl syndrome (BBS), a model ciliopathy for understanding the role of cilia in human health. STUDY DESIGN: The Clinical Registry Investigating BBS, a worldwide registry exploring the phenotype and natural history of BBS, was used to conduct the study. Protected health information was obtained by subject or family interview and Health Insurance Portability and Accountability Act-approved release of data including imaging studies and genetic testing...
October 4, 2018: Journal of Pediatrics
https://read.qxmd.com/read/30287585/trafficking-of-ciliary-membrane-proteins-by-the-intraflagellar-transport-bbsome-machinery
#14
REVIEW
Jenna L Wingfield, Karl-Ferdinand Lechtreck, Esben Lorentzen
Bardet-Biedl syndrome (BBS) is a rare inherited disease caused by defects in the BBSome, an octameric complex of BBS proteins. The BBSome is conserved in most organisms with cilia, which are microtubule (MT)-based cell organelles that protrude from the cell surface and function in motility and sensing. Cilia assembly, maintenance, and function require intraflagellar transport (IFT), a bidirectional motility of multi-megadalton IFT trains propelled by molecular motors along the ciliary MTs. IFT has been shown to transport structural proteins, including tubulin, into growing cilia...
October 4, 2018: Essays in Biochemistry
https://read.qxmd.com/read/30234512/anesthetic-management-of-a-pediatric-patient-with-bardet-biedl-syndrome
#15
Tuba Gencol, Demet Sergin, Taner Balcioglu
Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that affects many organ systems. In cases of Bardet-Biedl syndrome, since the risk of developing inspiratory, cardiovascular, and metabolic problems is high, endotracheal intubation and anesthesia management are difficult. In this report, we present our experience in the management of anesthesia during endoscopic sinus surgery that was performed for the first time on a 6-year-old pediatric patient diagnosed with Bardet-Biedl syndrome.
September 18, 2018: A&A practice
https://read.qxmd.com/read/30142598/generation-of-induced-pluripotent-stem-cells-kci001-a-derived-from-a-bardet-biedl-syndrome-patient-compound-heterozygous-for-the-bbs1-variants-c-1169t-g-c-1135g-c
#16
Caroline Amalie Brunbjerg Hey, Katarina Beata Saltõkowa, Lasse Jonsgaard Larsen, Zeynep Tümer, Karen Brøndum-Nielsen, Karen Grønskov, Tina Duelund Hjortshøj, Lisbeth Birk Møller
Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with a wide range of symptoms including obesity, retinal dystrophy, polycystic kidney disease, polydactyly, hypogonadism and learning difficulties. Here we describe the successful generation of an induced pluripotent stem cell (iPSC) KCi001-A from a BBS patient compound heterozygous for two disease causing BBS1 variants c.1169T>G, p. (Met390Arg)/c.1135G>C, p.(Gly370Arg). Resource table.
August 2018: Stem Cell Research
https://read.qxmd.com/read/30073714/early-prenatal-detection-of-bardet-biedl-syndrome-in-a-case-with-postaxial-polydactyly-and-hyperechoic-kidneys-confirmed-by-next-generation-sequencing
#17
Qiao-Yi Li, Lv-Ying Huang, Dong-Zhi Li
No abstract text is available yet for this article.
August 3, 2018: Congenital Anomalies
https://read.qxmd.com/read/30062583/functions-and-dysfunctions-of-the-mammalian-centrosome-in-health-disorders-disease-and-aging
#18
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...
October 2018: Histochemistry and Cell Biology
https://read.qxmd.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
#19
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://read.qxmd.com/read/29866251/a-newborn-with-rare-mckusick-syndrome
#20
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
keyword
keyword
166002
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"