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  1. Article ; Online: Pathophysiology of premature aging characteristics in Mendelian progeroid disorders.

    Hennekam, Raoul C M

    European journal of medical genetics

    2020  Volume 63, Issue 11, Page(s) 104028

    Abstract: Aging is a physiological process that is in part genetically determined. Some of the signs and symptoms of aging also occur prematurely in Mendelian disorders. Such disorders are excellent sources of information of underlying mechanisms for these ... ...

    Abstract Aging is a physiological process that is in part genetically determined. Some of the signs and symptoms of aging also occur prematurely in Mendelian disorders. Such disorders are excellent sources of information of underlying mechanisms for these components of aging, and studying these may allow detection of pathways that have not yet considered in detail in physiological aging. Here I define the clinical characteristics that constitute aging and propose that at least 40% of aging signs and symptoms should be present before an entity should be tagged as progeroid. A literature search using these characteristics yields 17 entities that fulfill this definition: Hutchinson-Gilford progeria, mandibulo-acral dysplasia, Nestor-Guillermo progeria, Werner syndrome, Cockayne syndrome, cutis laxa progeroid, Penttinen progeroid syndrome, Mandibular underdevelopment, Deafness, Progeroid features, Lipodystrophy, Fontaine progeroid syndrome, SHORT syndrome, Wiedemann-Rautenstrauch syndrome, Mulvihill-Smith syndrome, dyskeratosis congenita, Marfan syndrome lipodystrophy type, Warburg-Cinotti syndrome, Lessel syndrome and Bloom syndrome. The presenting and main characteristics of these entities are indicated briefly. Their pathophysiology is not complete pathophysiology is reviewed but only the pathophysiology of the premature aging characteristics of this series of entities is compared to the known mechanisms ("Hallmarks") of physiological aging as summarized in the review paper by Lopez-Otin and colleagues. Although many causative genes have not been studied fully for all known aging mechanisms the comparison demonstrates that additional mechanisms must play a role to explain the aging characteristic in some of the progeroid entities of the progeroid entities, and possibly also in physiological aging.
    MeSH term(s) Aging/genetics ; Aging/pathology ; Genetic Heterogeneity ; Humans ; Phenotype ; Progeria/genetics ; Progeria/pathology
    Language English
    Publishing date 2020-08-10
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2020.104028
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    Zs.A 84/9: Show issues Location:
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  2. Article ; Online: The external phenotype of aging.

    Hennekam, Raoul C M

    European journal of medical genetics

    2020  Volume 63, Issue 11, Page(s) 103995

    Abstract: Aging is widely studied as a physiological process. Segmental aging can also occur prematurely in Mendelian disorders, and these can act this way as excellent sources of information, specifically for the underlying mechanisms. Adequate recognition of ... ...

    Abstract Aging is widely studied as a physiological process. Segmental aging can also occur prematurely in Mendelian disorders, and these can act this way as excellent sources of information, specifically for the underlying mechanisms. Adequate recognition of such aging characteristics in Mendelian disorders needs a well-defined phenotype of aging. Here the external phenotype of aging is described that can be recognized in the consulting room without major additional studies. Existing definitions of the signs and symptoms in Elements of Morphology or Human Phenotype Ontology are added or a new definition is suggested if none is available.
    MeSH term(s) Aging/genetics ; Aging/pathology ; Aging/physiology ; Face/anatomy & histology ; Humans ; Phenotype ; Physical Appearance, Body
    Keywords covid19
    Language English
    Publishing date 2020-07-26
    Publishing country Netherlands
    Document type Journal Article ; Review
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2020.103995
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  3. Book: Gorlin's syndromes of the head and neck

    Hennekam, Raoul C. / Krantz, Ian D. / Allanson, Judith E. / Gorlin, Robert J.

    (Oxford monographs on medical genetics ; 58)

    2010  

    Author's details Raoul C. M. Hennekam ; Judith E. Allanson ; Ian D. Krantz
    Series title Oxford monographs on medical genetics ; 58
    Collection
    Keywords Head / abnormalities ; Disease ; Neck / abnormalities ; Syndrome ; Terminology as Topic ; Head/Abnormalities ; Head/Diseases/Genetic aspects ; Neck/Diseases/Genetic aspects
    Subject code 617.51
    Language English
    Size LXI, 1452 S. : zahlr. Ill., 28cm
    Edition 5. ed.
    Publisher Oxford Univ. Press
    Publishing place New York
    Publishing country United States
    Document type Book
    Note Includes bibliographical references and index. - Previous ed.: published as Syndromes of the head and neck by Robert J. Gorlin, M. Michael Cohen and Raoul C.M. Hennekam. 2001
    Old title 4. Aufl. u.d.T. Gorlin, Robert J.: Syndromes of the head and neck
    HBZ-ID HT016308810
    ISBN 978-0-19-530790-0 ; 0-19-530790-9
    Database Catalogue ZB MED Medicine, Health

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    2010 A 1823 order for loan Magazin

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  4. Article ; Online: Genetic control of tumor development in malformation syndromes.

    Postema, Floor A M / Oosterwijk, Jan C / Hennekam, Raoul C

    American journal of medical genetics. Part A

    2020  Volume 185, Issue 2, Page(s) 324–335

    Abstract: One of the questions that arises frequently when caring for an individual with a malformation syndrome, is whether some form of tumor surveillance is indicated. In some syndromes there is a highly variable increased risk to develop tumors, while in ... ...

    Abstract One of the questions that arises frequently when caring for an individual with a malformation syndrome, is whether some form of tumor surveillance is indicated. In some syndromes there is a highly variable increased risk to develop tumors, while in others this is not the case. The risks can be hard to predict and difficult to explain to affected individuals and their families, and often also to caregivers. The queries arise especially if syndrome causing mutations are also known to occur in tumors. It needs insight in the mechanisms to understand and explain differences of tumor occurrence, and to offer optimal care to individuals with syndromes. Here we provide a short overview of the major mechanisms of the control for tumor occurrences in malformation syndromes.
    MeSH term(s) Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Genetic Predisposition to Disease ; Humans ; Mutation/genetics ; Neoplasms/genetics ; Neoplasms/pathology
    Language English
    Publishing date 2020-11-03
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.61947
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  5. Article ; Online: "Hypothesis: Patient with possible disturbance in programmed cell death": further insights in pathogenicity and clinical features of Fraser syndrome.

    Rumping, Lynne / Hennekam, Raoul C M / Alders, Mariëlle / van Haelst, Mieke M

    European journal of human genetics : EJHG

    2022  Volume 31, Issue 1, Page(s) 16–17

    MeSH term(s) Humans ; Fraser Syndrome ; Virulence ; Syndactyly ; Abnormalities, Multiple ; Apoptosis
    Language English
    Publishing date 2022-08-30
    Publishing country England
    Document type Letter
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-022-01175-x
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    Zs.A 3589: Show issues Location:
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  6. Article ; Online: 5p13 microduplication in a malformed fetus and his unaffected father.

    Kariminejad, Ariana / Ghaderi-Sohi, Siavash / Gholami, Soheila / Najafi, Kimia / Kariminejad, Roxana / Hennekam, Raoul C M

    American journal of medical genetics. Part A

    2022  Volume 191, Issue 2, Page(s) 370–377

    Abstract: The 5p13 microduplication syndrome is a contiguous gene syndrome characterized by developmental delay intellectual disability, hypotonia, unusual facies with marked variability, mild limb anomalies, and in some cases brain malformations. The duplication ... ...

    Abstract The 5p13 microduplication syndrome is a contiguous gene syndrome characterized by developmental delay intellectual disability, hypotonia, unusual facies with marked variability, mild limb anomalies, and in some cases brain malformations. The duplication ranges in size from 0.25 to 1.08 Mb and encompasses five genes (NIPBL, SLC1A3, CPLANE1, NUP155, and WDR70), of which NIPBL has been suggested to be the main dose sensitive gene. All patients with duplication of the complete NIPBL gene reported thus far have been de novo. Here, we report a 25-week-old male fetus with hypertelorism, wide and depressed nasal bridge, depressed nasal tip, low-set ears, clenched hands, flexion contracture of elbows, knees, and left wrist, and bilateral clubfeet, bowing and shortening of long bones and brain malformation of dorsal part of callosal body. The fetus had a 667 kb gain at 5p13.2 encompassing SLC1A3, NIPBL and exons 22-52 of CPLANE1. The microduplication was inherited from the healthy father, in whom no indication for mosaicism was detected. The family demonstrates that incomplete penetrance of 5p13 microduplication syndrome may occur which is important in genetic counseling of families with this entity.
    MeSH term(s) Humans ; Male ; Abnormalities, Multiple/genetics ; Cell Cycle Proteins/genetics ; Chromosome Duplication/genetics ; Fathers ; Fetus ; Intellectual Disability/genetics ; Mosaicism
    Chemical Substances Cell Cycle Proteins ; NIPBL protein, human
    Language English
    Publishing date 2022-11-02
    Publishing country United States
    Document type Case Reports ; Journal Article
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63030
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  7. Book: Syndromes of the head and neck

    Gorlin, Robert J. / Cohen, Meyer Michael / Hennekam, Raoul C.

    (Oxford monographs on medical genetics ; 42)

    2001  

    Author's details Robert J. Gorlin ; M. Michael Cohen ; Raoul C. M. Hennekam
    Series title Oxford monographs on medical genetics ; 42
    Collection
    Keywords Disease ; Syndrome ; Head / abnormalities ; Neck / abnormalities ; Kopf ; Syndrom ; Hals
    Subject Syndrome ; Collum ; Caput ; Haupt
    Language English
    Size XLV, 1283 S. : zahlr. Ill., graph. Darst.
    Edition 4. ed.
    Publisher Oxford Univ. Press
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    New title 5. Aufl. u.d.T. Hennekam, Raoul C.: Gorlin's syndromes of the head and neck
    HBZ-ID HT013210503
    ISBN 0-19-511861-8 ; 978-0-19-511861-2
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    2001 A 6163 order for loan Magazin

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  8. Article ; Online: Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings.

    Hu, Yalan / Codner, Gemma F / Stewart, Michelle / La Fleur, Susanne E / van Trotsenburg, Paul A S / Fliers, Eric / Hennekam, Raoul C / Boelen, Anita

    Journal of molecular endocrinology

    2024  Volume 73, Issue 1

    Abstract: Humans with the mutation Y509C in transducin beta like 1 X-linked (TBL1X HGNC ID HGNC:11585) have been reported to present with the combination of central congenital hypothyroidism and impaired hearing. TBL1X belongs to the WD40 repeat-containing protein ...

    Abstract Humans with the mutation Y509C in transducin beta like 1 X-linked (TBL1X HGNC ID HGNC:11585) have been reported to present with the combination of central congenital hypothyroidism and impaired hearing. TBL1X belongs to the WD40 repeat-containing protein family, is part of NCoR and SMRT corepressor complexes, and thereby involved in thyroid hormone signaling. In order to investigate the effects of the Y509C mutation in TBL1X on cellular thyroid hormone action, we aimed to generate a hemizygous male mouse cohort carrying the Tbl1x Y459C mutation which is equivalent to the human TBL1X Y509C mutation using CRISPR/Cas9 technology. Hemizygous male mice were small at birth and inactive. Their life span (median life span 93 days) was very short compared with heterozygous female mice (survived to >200 days with no welfare issues). About 52% of mice did not survive to weaning (133 mice). Of the remaining 118 mice, only 8 were hemizygous males who were unable to mate whereby it was impossible to generate homozygous female mice. In conclusion, the Tbl1x Y459C mutation in male mice has a marked negative effect on birth weight, survival, and fertility of male mice. The present findings are unexpected as they are in contrast to the mild phenotype in human males carrying the equivalent TBL1X Y509C mutation.
    MeSH term(s) Animals ; Female ; Humans ; Male ; Mice ; Hemizygote ; Longevity/genetics ; Mutation/genetics ; Phenotype ; Transducin/genetics ; Transducin/metabolism
    Chemical Substances Transducin (EC 3.6.5.1) ; Tbl1x protein, mouse
    Language English
    Publishing date 2024-03-22
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 645012-x
    ISSN 1479-6813 ; 0952-5041
    ISSN (online) 1479-6813
    ISSN 0952-5041
    DOI 10.1530/JME-23-0116
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  9. Book ; Thesis: The Rubinstein-Taybi syndrome in the Netherlands

    Hennekam, Raoul C.

    a clinical genetic survey

    1990  

    Author's details R. C. M. Hennekam
    Keywords Rubinstein-Taybi Syndrome ; Niederlande ; Rubinstein-Taybisyndrom ; Epidemiologie ; Rubinstein-Taybi-Syndrom ; Krankheitsverlauf
    Subject Krankheit ; Krankheitsverbreitung
    Size 81 S. : Ill., graph. Darst., Kt.
    Publisher Thesis Publ
    Publishing place Amsterdam
    Publishing country Netherlands
    Document type Book ; Thesis
    Thesis / German Habilitation thesis Leiden, Univ., Diss., 1990
    HBZ-ID HT004012543
    ISBN 90-5170-056-3 ; 978-90-5170-056-5
    Database Catalogue ZB MED Medicine, Health

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    1992 A 946 order for loan Magazin

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  10. Article ; Online: A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia

    Cristea, Ileana / Abarca, Hugo / Christensen Mellgren, Anne E. / Trubnykova, Milana / Mehrasa, Roya / Peters, Dorien J. M. / Houge, Gunnar / Hennekam, Raoul C. M. / Rødahl, Eyvind / Bruland, Ove / Bredrup, Cecilie

    FEBS Letters. 2023 May, v. 597, no. 9 p.1290-1299

    2023  

    Abstract: Ocular pterygium–digital keloid dysplasia (OPDKD) is a rare hereditary disease characterized by corneal ingrowth of vascularized conjunctival tissue early in life. Later, patients develop keloids on fingers and toes but are otherwise healthy. In a ... ...

    Abstract Ocular pterygium–digital keloid dysplasia (OPDKD) is a rare hereditary disease characterized by corneal ingrowth of vascularized conjunctival tissue early in life. Later, patients develop keloids on fingers and toes but are otherwise healthy. In a recently described family with OPDKD, we report the presence of a de novo c.770C > T, p.(Thr257Ile) variant in PELI2 in the affected individual. PELI2 encodes for the E3 ubiquitin ligase Pellino‐2. In transgenic U87MG cells overexpressing Pellino‐2 with the p.(Thr257Ile) amino acid substitution, constitutive activation of the NLRP3 inflammasome was observed. However, the Thr257Ile variant did not affect Pellino‐2 intracellular localization, its binding to known interaction partners, nor its stability. Our findings indicate that constitutive autoactivation of the NLRP3 inflammasome contributes to the development of PELI2‐associated OPDKD.
    Keywords amino acid substitution ; cornea ; genetic disorders ; genetically modified organisms ; inflammasomes ; ubiquitin-protein ligase
    Language English
    Dates of publication 2023-05
    Size p. 1290-1299.
    Publishing place John Wiley & Sons, Ltd
    Document type Article ; Online
    Note JOURNAL ARTICLE
    ZDB-ID 212746-5
    ISSN 1873-3468 ; 0014-5793
    ISSN (online) 1873-3468
    ISSN 0014-5793
    DOI 10.1002/1873-3468.14597
    Database NAL-Catalogue (AGRICOLA)

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