[Frontiers in Bioscience 13, 2633-2652, January 1, 2008] 2633 Intraflagellar Transport: from Molecular Characterisation to Mech
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Educational Paper Ciliopathies
Eur J Pediatr (2012) 171:1285–1300 DOI 10.1007/s00431-011-1553-z REVIEW Educational paper Ciliopathies Carsten Bergmann Received: 11 June 2011 /Accepted: 3 August 2011 /Published online: 7 September 2011 # The Author(s) 2011. This article is published with open access at Springerlink.com Abstract Cilia are antenna-like organelles found on the (NPHP) . Ivemark syndrome . Meckel syndrome (MKS) . surface of most cells. They transduce molecular signals Joubert syndrome (JBTS) . Bardet–Biedl syndrome (BBS) . and facilitate interactions between cells and their Alstrom syndrome . Short-rib polydactyly syndromes . environment. Ciliary dysfunction has been shown to Jeune syndrome (ATD) . Ellis-van Crefeld syndrome (EVC) . underlie a broad range of overlapping, clinically and Sensenbrenner syndrome . Primary ciliary dyskinesia genetically heterogeneous phenotypes, collectively (Kartagener syndrome) . von Hippel-Lindau (VHL) . termed ciliopathies. Literally, all organs can be affected. Tuberous sclerosis (TSC) . Oligogenic inheritance . Modifier. Frequent cilia-related manifestations are (poly)cystic Mutational load kidney disease, retinal degeneration, situs inversus, cardiac defects, polydactyly, other skeletal abnormalities, and defects of the central and peripheral nervous Introduction system, occurring either isolated or as part of syn- dromes. Characterization of ciliopathies and the decisive Defective cellular organelles such as mitochondria, perox- role of primary cilia in signal transduction and cell isomes, and lysosomes are well-known -
Ciliopathiesneuromuscularciliopathies Disorders Disorders Ciliopathiesciliopathies
NeuromuscularCiliopathiesNeuromuscularCiliopathies Disorders Disorders CiliopathiesCiliopathies AboutAbout EGL EGL Genet Geneticsics EGLEGL Genetics Genetics specializes specializes in ingenetic genetic diagnostic diagnostic testing, testing, with with ne nearlyarly 50 50 years years of of clinical clinical experience experience and and board-certified board-certified labor laboratoryatory directorsdirectors and and genetic genetic counselors counselors reporting reporting out out cases. cases. EGL EGL Genet Geneticsics offers offers a combineda combined 1000 1000 molecular molecular genetics, genetics, biochemical biochemical genetics,genetics, and and cytogenetics cytogenetics tests tests under under one one roof roof and and custom custom test testinging for for all all medically medically relevant relevant genes, genes, for for domestic domestic andand international international clients. clients. EquallyEqually important important to to improving improving patient patient care care through through quality quality genetic genetic testing testing is is the the contribution contribution EGL EGL Genetics Genetics makes makes back back to to thethe scientific scientific and and medical medical communities. communities. EGL EGL Genetics Genetics is is one one of of only only a afew few clinical clinical diagnostic diagnostic laboratories laboratories to to openly openly share share data data withwith the the NCBI NCBI freely freely available available public public database database ClinVar ClinVar (>35,000 (>35,000 variants variants on on >1700 >1700 genes) genes) and and is isalso also the the only only laboratory laboratory with with a a frefree oen olinnlein dea dtabtaabsaes (eE m(EVmCVlaCslas)s,s f)e, afetuatruinrgin ag vaa vraiarniatn ctl acslasisfiscifiactiaotino sne saercahrc ahn adn rde rpeoprot rrte rqeuqeuset sint tinetrefarcfaec, ew, hwichhic fha cfailcitialiteatse rsa praidp id interactiveinteractive curation curation and and reporting reporting of of variants. -
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity Received: 11 November 2016 Audrey E
www.nature.com/scientificreports OPEN Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity Received: 11 November 2016 Audrey E. Hendricks1,2, Elena G. Bochukova3,4, Gaëlle Marenne1, Julia M. Keogh3, Neli Accepted: 10 April 2017 Atanassova3, Rebecca Bounds3, Eleanor Wheeler1, Vanisha Mistry3, Elana Henning3, Published: xx xx xxxx Understanding Society Scientific Group*, Antje Körner5,6, Dawn Muddyman1, Shane McCarthy1, Anke Hinney7, Johannes Hebebrand7, Robert A. Scott8, Claudia Langenberg8, Nick J. Wareham8, Praveen Surendran9, Joanna M. Howson9, Adam S. Butterworth9,10, John Danesh1,9,10, EPIC-CVD Consortium*, Børge G Nordestgaard11,12, Sune F Nielsen11,12, Shoaib Afzal11,12, SofiaPa padia3, SofieAshford 3, Sumedha Garg3, Glenn L. Millhauser13, Rafael I. Palomino13, Alexandra Kwasniewska3, Ioanna Tachmazidou1, Stephen O’Rahilly3, Eleftheria Zeggini1, UK10K Consortium*, Inês Barroso1,3 & I. Sadaf Farooqi3 Obesity is a genetically heterogeneous disorder. Using targeted and whole-exome sequencing, we studied 32 human and 87 rodent obesity genes in 2,548 severely obese children and 1,117 controls. We identified 52 variants contributing to obesity in 2% of cases including multiple novel variants in GNAS, which were sometimes found with accelerated growth rather than short stature as described previously. Nominally significant associations were found for rare functional variants inBBS1 , BBS9, GNAS, MKKS, CLOCK and ANGPTL6. The p.S284X variant in ANGPTL6 drives the association signal (rs201622589, MAF~0.1%, odds ratio = 10.13, p-value = 0.042) and results in complete loss of secretion in cells. Further analysis including additional case-control studies and population controls (N = 260,642) did not support association of this variant with obesity (odds ratio = 2.34, p-value = 2.59 × 10−3), highlighting the challenges of testing rare variant associations and the need for very large sample sizes. -
Ciliopathies Gene Panel
Ciliopathies Gene Panel Contact details Introduction Molecular Genetics Service The ciliopathies are a heterogeneous group of conditions with considerable phenotypic overlap. Level 6, Barclay House These inherited diseases are caused by defects in cilia; hair-like projections present on most 37 Queen Square cells, with roles in key human developmental processes via their motility and signalling functions. Ciliopathies are often lethal and multiple organ systems are affected. Ciliopathies are London, WC1N 3BH united in being genetically heterogeneous conditions and the different subtypes can share T +44 (0) 20 7762 6888 many clinical features, predominantly cystic kidney disease, but also retinal, respiratory, F +44 (0) 20 7813 8578 skeletal, hepatic and neurological defects in addition to metabolic defects, laterality defects and polydactyly. Their clinical variability can make ciliopathies hard to recognise, reflecting the ubiquity of cilia. Gene panels currently offer the best solution to tackling mutational analysis of Samples required genetically heterogeneous conditions such as the ciliopathies. Ciliopathies affect approximately 5ml venous blood in plastic EDTA 1:2,000 births. bottles (>1ml from neonates) Ciliopathies are generally inherited in an autosomal recessive manner, with some autosomal Prenatal testing must be arranged dominant and X-linked exceptions. in advance, through a Clinical Genetics department if possible. Referrals Amniotic fluid or CV samples Patients presenting with a ciliopathy; due to the phenotypic variability this could be a diverse set should be sent to Cytogenetics for of features. For guidance contact the laboratory or Dr Hannah Mitchison dissecting and culturing, with ([email protected]) / Prof Phil Beales ([email protected]) instructions to forward the sample to the Regional Molecular Genetics Referrals will be accepted from clinical geneticists and consultants in nephrology, metabolic, laboratory for analysis respiratory and retinal diseases. -
Detection of TRIM32 Deletions in LGMD Patients Analyzed by a Combined Strategy of CGH Array and Massively Parallel Sequencing
European Journal of Human Genetics (2015) 23, 929–934 & 2015 Macmillan Publishers Limited All rights reserved 1018-4813/15 www.nature.com/ejhg ARTICLE Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing Juliette Nectoux1,2,14, Rafael de Cid3,14,15, Sylvain Baulande4, France Leturcq1,5, Jon Andoni Urtizberea6, Isabelle Penisson-Besnier7, Aleksandra Nadaj-Pakleza7, Carinne Roudaut3, Audrey Criqui4, Lucie Orhant1, Delphine Peyroulan8, Raba Ben Yaou5, Isabelle Nelson5, Anna Maria Cobo6, Marie-Christine Arné-Bes9, Emmanuelle Uro-Coste9, Patrick Nitschke10, Mireille Claustres8,11, Gisèle Bonne5,12, Nicolas Lévy13, Jamel Chelly1,2, Isabelle Richard3 and Mireille Cossée*,8,11 Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome. Few cases have been described to date in LGMD2H/STM, but this gene is not systematically analysed because of the absence of specific signs and difficulties in protein analysis. By using high-throughput variants screening techniques, we identified variants in TRIM32 in two patients presenting nonspecific LGMD. We report the first case of total inactivation by homozygous deletion of the entire TRIM32 gene. Of interest, the deletion removes part of the ASTN2 gene, a large gene in which TRIM32 is nested. Despite the total TRIM32 gene inactivation, the patient does not present a more severe phenotype. However, he developed a mild progressive cognitive impairment that may be related to the loss of function of ASTN2 because association between ASTN2 heterozygous deletions and neurobehavioral disorders was previously reported. Regarding genomic characteristics at breakpoint of the deleted regions of TRIM32, we found a high density of repeated elements, suggesting a possible hotspot. -
Loss of C. Elegans BBS-7 and BBS-8 Protein Function Results in Cilia Defects and Compromised Intraflagellar Transport
Downloaded from genesdev.cshlp.org on September 29, 2021 - Published by Cold Spring Harbor Laboratory Press Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport Oliver E. Blacque,1 Michael J. Reardon,2 Chunmei Li,1 Jonathan McCarthy,1 Moe R. Mahjoub,3 Stephen J. Ansley,4 Jose L. Badano,4 Allan K. Mah,1 Philip L. Beales,6 William S. Davidson,1 Robert C. Johnsen,1 Mark Audeh,2 Ronald H.A. Plasterk,7 David L. Baillie,1 Nicholas Katsanis,4,5 Lynne M. Quarmby,3 Stephen R. Wicks,2 and Michel R. Leroux1,8 1Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, B.C. V5A 1S6, Canada; 2Department of Biology, Boston College, Chestnut Hill, Massachusetts 02467, USA; 3Department of Biological Sciences, Simon Fraser University, Burnaby, B.C. V5A 1S6, Canada; 4Institute of Genetic Medicine and 5Wilmer Eye Institute, Johns Hopkins University, Baltimore, Maryland 21287, USA; 6Molecular Medicine Unit, Institute of Child Health, University College London, London WC1 1EH, UK; 7The Hubrecht Laboratory, Netherlands Institute of Developmental Biology, Uppsalalaan 8, 3584CT, Utrecht, The Netherlands Bardet-Biedl syndrome (BBS) is a genetically heterogeneous developmental disorder whose molecular basis is largely unknown. Here, we show that mutations in the Caenorhabditis elegans bbs-7 and bbs-8 genes cause structural and functional defects in cilia. C. elegans BBS proteins localize predominantly at the base of cilia, and like proteins involved in intraflagellar transport (IFT), a process necessary for cilia biogenesis and maintenance, move bidirectionally along the ciliary axoneme. Importantly, we demonstrate that BBS-7 and BBS-8 are required for the normal localization/motility of the IFT proteins OSM-5/Polaris and CHE-11, and to a notably lesser extent, CHE-2. -
Weight Patterns and Genetics in a Rare Obesity Syndrome
Received: 22 May 2020 Accepted: 30 June 2020 DOI: 10.1111/ijpo.12703 ORIGINAL RESEARCH Bardet-Biedl syndrome: Weight patterns and genetics in a rare obesity syndrome Jeremy Pomeroy1 | Anthony D. Krentz2 | Jesse G. Richardson1 | Richard L. Berg1 | Jeffrey J. VanWormer1 | Robert M. Haws1,3 1Clinical Research Center, Marshfield Clinic Research Institute, Marshfield, Wisconsin Summary 2Prevention Genetics, Marshfield, Wisconsin Background: Bardet-Biedl syndrome (BBS) is a rare genetic disorder that severely 3Department of Pediatrics, Marshfield Clinic inhibits primary cilia function. BBS is typified by obesity in adulthood, but pediatric Health System, Marshfield, Wisconsin weight patterns, and thus optimal periods of intervention, are poorly understood. Correspondence Objectives: To examine body mass differences by age, gender, and genotype in chil- Jeremy Pomeroy, Marshfield Clinic Research Institute, 1000 North Oak Ave, Marshfield, WI dren and adolescents with BBS. 54449. Methods: We utilized the largest international registry of BBS phenotypes. Anthro- Email: [email protected] pometric and genetic data were obtained from medical records or participant/family interviews. Participants were stratified by age and sex categories. Genotype and obe- sity phenotype were investigated in a subset of participants with available data. Results: Height and weight measurements were available for 552 unique individuals with BBS. The majority of birth weights were in the normal range, but rates of over- weight or obesity rapidly increased in early childhood, exceeding 90% after age 5. Weight z-scores in groups >2 years were above 2.0, while height z-scores approached 1.0, but were close to 0.0 in adolescents. Relative to those with the BBS10 genotype, the BBS1 cohort had a lower BMI z-score in the 2-5 and 6-11 age groups, with similar BMI z-scores thereafter. -
Inhibition of Neural Crest Migration Underlies Craniofacial Dysmorphology and Hirschsprung's Disease in Bardet–Biedl Syndrom
Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet–Biedl syndrome Jonathan L. Tobin*, Matt Di Franco†, Erica Eichers‡, Helen May-Simera*, Monica Garcia‡, Jiong Yan‡, Robyn Quinlan*, Monica J. Justice‡, Raoul C. Hennekam§¶, James Briscoeʈ, Masazumi Tada**, Roberto Mayor**, Alan J. Burns††, James R. Lupski‡, Peter Hammond*†, and Philip L. Beales*‡‡ *Molecular Medicine Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom; †Biomedical Informatics Unit, UCL Eastman Dental Institute for Oral Health Care Sciences, 256 Gray’s Inn Road, London WC1X 8LD, United Kingdom; ‡Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030; ʈDevelopmental Neurobiology, National Institute for Medical Research, London NW7 1AA, United Kingdom; **Department of Anatomy and Developmental Biology, University College London, London WC1E 6BT, United Kingdom; ††Neural Development Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom; §Clinical and Molecular Genetics Unit, UCL Institute of Child Health, 30 Guilford Street, London WC1N 1EH, United Kingdom; and ¶Department of Pediatrics, Academic Medical Centre, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands Edited by Kathryn V. Anderson, Sloan–Kettering Institute, New York, NY, and approved March 6, 2008 (received for review July 30, 2007) Facial recognition is central to the diagnosis of many syndromes, oral ectoderm is essential for the formation of most facial structures and craniofacial patterns may reflect common etiologies. In the (12). Shh-deficient mice have severe loss of craniofacial bones, and, pleiotropic Bardet–Biedl syndrome (BBS), a primary ciliopathy with in humans, SHH mutations cause midline CF defects with holo- intraflagellar transport dysfunction, patients have a characteristic prosencephaly (HPE) (12). -
Molecular Diagnostic Requisition
BAYLOR MIRACA GENETICS LABORATORIES SHIP TO: Baylor Miraca Genetics Laboratories 2450 Holcombe, Grand Blvd. -Receiving Dock PHONE: 800-411-GENE | FAX: 713-798-2787 | www.bmgl.com Houston, TX 77021-2024 Phone: 713-798-6555 MOLECULAR DIAGNOSTIC REQUISITION PATIENT INFORMATION SAMPLE INFORMATION NAME: DATE OF COLLECTION: / / LAST NAME FIRST NAME MI MM DD YY HOSPITAL#: ACCESSION#: DATE OF BIRTH: / / GENDER (Please select one): FEMALE MALE MM DD YY SAMPLE TYPE (Please select one): ETHNIC BACKGROUND (Select all that apply): UNKNOWN BLOOD AFRICAN AMERICAN CORD BLOOD ASIAN SKELETAL MUSCLE ASHKENAZIC JEWISH MUSCLE EUROPEAN CAUCASIAN -OR- DNA (Specify Source): HISPANIC NATIVE AMERICAN INDIAN PLACE PATIENT STICKER HERE OTHER JEWISH OTHER (Specify): OTHER (Please specify): REPORTING INFORMATION ADDITIONAL PROFESSIONAL REPORT RECIPIENTS PHYSICIAN: NAME: INSTITUTION: PHONE: FAX: PHONE: FAX: NAME: EMAIL (INTERNATIONAL CLIENT REQUIREMENT): PHONE: FAX: INDICATION FOR STUDY SYMPTOMATIC (Summarize below.): *FAMILIAL MUTATION/VARIANT ANALYSIS: COMPLETE ALL FIELDS BELOW AND ATTACH THE PROBAND'S REPORT. GENE NAME: ASYMPTOMATIC/POSITIVE FAMILY HISTORY: (ATTACH FAMILY HISTORY) MUTATION/UNCLASSIFIED VARIANT: RELATIONSHIP TO PROBAND: THIS INDIVIDUAL IS CURRENTLY: SYMPTOMATIC ASYMPTOMATIC *If family mutation is known, complete the FAMILIAL MUTATION/ VARIANT ANALYSIS section. NAME OF PROBAND: ASYMPTOMATIC/POPULATION SCREENING RELATIONSHIP TO PROBAND: OTHER (Specify clinical findings below): BMGL LAB#: A COPY OF ORIGINAL RESULTS ATTACHED IF PROBAND TESTING WAS PERFORMED AT ANOTHER LAB, CALL TO DISCUSS PRIOR TO SENDING SAMPLE. A POSITIVE CONTROL MAY BE REQUIRED IN SOME CASES. REQUIRED: NEW YORK STATE PHYSICIAN SIGNATURE OF CONSENT I certify that the patient specified above and/or their legal guardian has been informed of the benefits, risks, and limitations of the laboratory test(s) requested. -
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies Review Article
Review Article 04/25/2018 on mAXWo3ZnzwrcFjDdvMDuzVysskaX4mZb8eYMgWVSPGPJOZ9l+mqFwgfuplwVY+jMyQlPQmIFeWtrhxj7jpeO+505hdQh14PDzV4LwkY42MCrzQCKIlw0d1O4YvrWMUvvHuYO4RRbviuuWR5DqyTbTk/icsrdbT0HfRYk7+ZAGvALtKGnuDXDohHaxFFu/7KNo26hIfzU/+BCy16w7w1bDw== by https://journals.lww.com/continuum from Downloaded Downloaded from Address correspondence to https://journals.lww.com/continuum Dr Stanley Jones P. Iyadurai, Ohio State University, Wexner The Limb-Girdle Medical Center, Department of Neurology, 395 W 12th Ave, Columbus, OH 43210, Muscular Dystrophies and [email protected]. Relationship Disclosure: by mAXWo3ZnzwrcFjDdvMDuzVysskaX4mZb8eYMgWVSPGPJOZ9l+mqFwgfuplwVY+jMyQlPQmIFeWtrhxj7jpeO+505hdQh14PDzV4LwkY42MCrzQCKIlw0d1O4YvrWMUvvHuYO4RRbviuuWR5DqyTbTk/icsrdbT0HfRYk7+ZAGvALtKGnuDXDohHaxFFu/7KNo26hIfzU/+BCy16w7w1bDw== Dr Iyadurai has received the Dystrophinopathies personal compensation for serving on the advisory boards of Allergan; Alnylam Stanley Jones P. Iyadurai, MSc, PhD, MD; John T. Kissel, MD, FAAN Pharmaceuticals, Inc; CSL Behring; and Pfizer, Inc. Dr Kissel has received personal ABSTRACT compensation for serving on a consulting board of AveXis, Purpose of Review: The classic approach to identifying and accurately diagnosing limb- Inc; as journal editor of Muscle girdle muscular dystrophies (LGMDs) relied heavily on phenotypic characterization and & Nerve; and as a consultant ancillary studies including muscle biopsy. Because of rapid advances in genetic sequencing for Novartis AG. Dr Kissel has received research/grant methodologies, -
Perkinelmer Genomics to Request the Saliva Swab Collection Kit for Patients That Cannot Provide a Blood Sample As Whole Blood Is the Preferred Sample
Eye Disorders Comprehensive Panel Test Code D4306 Test Summary This test analyzes 211 genes that have been associated with ocular disorders. Turn-Around-Time (TAT)* 3 - 5 weeks Acceptable Sample Types Whole Blood (EDTA) (Preferred sample type) DNA, Isolated Dried Blood Spots Saliva Acceptable Billing Types Self (patient) Payment Institutional Billing Commercial Insurance Indications for Testing Individuals with an eye disease suspected to be genetic in origin Individuals with a family history of eye disease Individuals suspected to have a syndrome associated with an eye disease Test Description This panel analyzes 211 genes that have been associated with ocular disorders. Both sequencing and deletion/duplication (CNV) analysis will be performed on the coding regions of all genes included (unless otherwise marked). All analysis is performed utilizing Next Generation Sequencing (NGS) technology. CNV analysis is designed to detect the majority of deletions and duplications of three exons or greater in size. Smaller CNV events may also be detected and reported, but additional follow-up testing is recommended if a smaller CNV is suspected. All variants are classified according to ACMG guidelines. Condition Description Diseases associated with this panel include microphtalmia, anophthalmia, coloboma, progressive external ophthalmoplegia, optic nerve atrophy, retinal dystrophies, retinitis pigementosa, macular degeneration, flecked-retinal disorders, Usher syndrome, albinsm, Aloprt syndrome, Bardet Biedl syndrome, pulmonary fibrosis, and Hermansky-Pudlak -
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice
Genetics Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice Viola Kretschmer,1 Sarita Rani Patnaik,1 Friedrich Kretschmer,2 Mira Manilal Chawda,3 Victor Hernandez-Hernandez,3,4 and Helen Louise May-Simera1 1Cilia Cell Biology, Institute of Molecular Physiology, Johannes Gutenberg University, Mainz, Germany 2Scientific Computing Facility, Max Planck Institute for Brain Research, Frankfurt, Germany 3Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom 4Department of Life Sciences, College of Health and Life Sciences, Brunel University London, London, United Kingdom Correspondence: Helen Louise May- PURPOSE. Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary Simera, Institute of Molecular Physi- trafficking and consequent function. Insights gained from BBS mouse models are applicable to ology, Johannes Gutenberg Universi- other syndromic and nonsyndromic retinal diseases. This progressive characterization of the ty, Johann-Joachim-Becher-Weg 13- visual phenotype in three BBS mouse models sets a baseline for testing therapeutic 15, Raum 1-521, Mainz 55128, Ger- interventions. many; [email protected]. METHODS. Longitudinal acquisition of electroretinograms, optical coherence tomography Submitted: July 6, 2018 scans, and visual acuity using the optomotor reflex in Bbs6/Mkks, Bbs8/Ttc8, and Bbs5 Accepted: February 17, 2019 knockout mice. Gene and protein expression analysis in vivo and in vitro. Citation: Kretschmer V, Patnaik SR, RESULTS. Complete loss of BBS5, BBS6, or BBS8 leads to different rates of retinal degeneration Kretschmer F, Chawda MM, Hernan- and visual function over time. BBS8-deficient mice showed the fastest rate of degeneration, dez-Hernandez V, May-Simera HL.