Literature DB >> 319005

Progeria: a cell culture study and clinical report of familial incidence.

T Rautenstrauch, F Snigula.   

Abstract

This report relates the case histories of two sisters who demonstrated the typical symptoms of progeria at birth. One of these children had died previous to this study. The familial occurrence underlines the thesis that progeria is an autosomal-recessive disorder. The examination of the cultured skin fibroblasts from the younger child showed a clear decrease in cell growth. On the other hand, the immunfluorescent examination of skin biopsies and cultured skin fibroblasts revealed no atypical distribution of collagen types.

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Year:  1977        PMID: 319005     DOI: 10.1007/bf00477545

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  27 in total

1.  Progeria.

Authors:  T DJUPESLAND
Journal:  Acta Paediatr       Date:  1962-07       Impact factor: 2.299

2.  Progeria, a pathologic study.

Authors:  M GABR; N HASHEM; M HASHEM; A FAHMI; M SAFOUH
Journal:  J Pediatr       Date:  1960-07       Impact factor: 4.406

3.  Progeria and atherosclerosis.

Authors:  A J KEAY; M F OLIVER; G S BOYD
Journal:  Arch Dis Child       Date:  1955-10       Impact factor: 3.791

4.  Report of a patient with typical progeria, including data from urinary hormone studies.

Authors:  E R PLUNKETT; W E SAWTELLE; E C HAMBLEN
Journal:  J Clin Endocrinol Metab       Date:  1954-07       Impact factor: 5.958

5.  (Alpha1(3))3 human skin collagen. Release by pepsin digestion and preponderance in fetal life.

Authors:  E H Epstein
Journal:  J Biol Chem       Date:  1974-05-25       Impact factor: 5.157

6.  Progeria. Case report with long-term studies of serum lipids.

Authors:  B G Macnamara; K T Farn; A K Mitra; J K Lloyd; A S Fosbrooke
Journal:  Arch Dis Child       Date:  1970-08       Impact factor: 3.791

7.  Progeria with unusual ocular manifestations: report of a case with a review of the literature.

Authors:  O N Bhakoo; S K Garg; V N Sehgal
Journal:  Indian Pediatr       Date:  1965-05       Impact factor: 1.411

8.  Liver cirrhosis: immunofluorescence and biochemical studies demonstrate two types of collagen.

Authors:  S Gay; P P Fietzek; K Remberger; M Eder; K Kühn
Journal:  Klin Wochenschr       Date:  1975-03-01

9.  [On a familial nucleus of progeria].

Authors:  G Rava
Journal:  Minerva Med       Date:  1967-04-25       Impact factor: 4.806

10.  [Progeria].

Authors:  G Koch; M Meyer-Robisch; G Schwanitz
Journal:  Folia Clin Int (Barc)       Date:  1966-11
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  20 in total

1.  Radiographic findings in Wiedemann-Rautenstrauch syndrome.

Authors:  M G Obregon; G L Bergami; A Giannotti; M C Digilio; Q Virgili; A M Guadagni; E Pompei; B Dallapiccola
Journal:  Pediatr Radiol       Date:  1992

2.  A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features.

Authors:  M B Delatycki; M A Cleary; A Bankier; P N McDougall; J S Ahluwalia; C W Chow; C M Cooke-Yarborough
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Wiedemann-Rautenstrauch syndrome.

Authors:  H V Toriello
Journal:  J Med Genet       Date:  1990-04       Impact factor: 6.318

4.  An unidentified neonatal progeroid syndrome: follow-up report.

Authors:  H R Wiedemann
Journal:  Eur J Pediatr       Date:  1979-01-18       Impact factor: 3.183

5.  Bi-allelic POLR3A Loss-of-Function Variants Cause Autosomal-Recessive Wiedemann-Rautenstrauch Syndrome.

Authors:  Jennifer A Wambach; Daniel J Wegner; Nivedita Patni; Martin Kircher; Marcia C Willing; Dustin Baldridge; Chao Xing; Anil K Agarwal; Samantha A Schrier Vergano; Chirag Patel; Dorothy K Grange; Amy Kenney; Tasnim Najaf; Deborah A Nickerson; Michael J Bamshad; F Sessions Cole; Abhimanyu Garg
Journal:  Am J Hum Genet       Date:  2018-11-07       Impact factor: 11.025

6.  A new neonatal progeroid syndrome.

Authors:  F Snigula; T Rautenstrauch
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

7.  Osteosarcoma in a patient with Hutchinson-Gilford progeria.

Authors:  C R King; J Lemmer; J R Campbell; A R Atkins
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

8.  Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann-Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations.

Authors:  Davor Lessel; Ayse Bilge Ozel; Susan E Campbell; Abdelkrim Saadi; Martin F Arlt; Keisha Melodi McSweeney; Vasilica Plaiasu; Katalin Szakszon; Anna Szőllős; Cristina Rusu; Armando J Rojas; Jaime Lopez-Valdez; Holger Thiele; Peter Nürnberg; Deborah A Nickerson; Michael J Bamshad; Jun Z Li; Christian Kubisch; Thomas W Glover; Leslie B Gordon
Journal:  Hum Genet       Date:  2018-11-19       Impact factor: 4.132

9.  The Wiedemann-Rautenstrauch or neonatal progeroid syndrome. Report of a patient with consanguineous parents.

Authors:  E A Devos; J G Leroy; J P Frijns; H Van den Berghe
Journal:  Eur J Pediatr       Date:  1981-07       Impact factor: 3.183

10.  LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Authors:  Henian Cao; Robert A Hegele
Journal:  J Hum Genet       Date:  2003-04-03       Impact factor: 3.172

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