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Literature DB >> 22487947

The Lebanese allele at the LDLR in normocholesterolemic people merits reconsideration of genotype phenotype correlations in familial hypercholesterolemia.

Akl C Fahed, Fadi F Bitar, Ruby I Khalaf, Elie M Moubarak, Sami T Azar, Georges M Nemer.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2012 PMID： 22487947 DOI： 10.1007/s12020-012-9669-0

Source DB: PubMed Journal: Endocrine ISSN： 1355-008X Impact factor: 3.633

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23 in total

1. Use of denaturing HPLC to provide efficient detection of mutations causing familial hypercholesterolemia.

Authors: Olaf A Bodamer; Dan Bercovich; Michael Schlabach; Christie Ballantyne; Danièle Zoch; Arthur L Beaudet
Journal: Clin Chem Date: 2002-11 Impact factor: 8.327

2. The Lebanese allele at the low density lipoprotein receptor locus. Nonsense mutation produces truncated receptor that is retained in endoplasmic reticulum.

Authors: M A Lehrman; W J Schneider; M S Brown; C G Davis; A Elhammer; D W Russell; J L Goldstein
Journal: J Biol Chem Date: 1987-01-05 Impact factor: 5.157

3. The LDL receptor gene: a mosaic of exons shared with different proteins.

Authors: T C Südhof; J L Goldstein; M S Brown; D W Russell
Journal: Science Date: 1985-05-17 Impact factor: 47.728

Review 4. Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

Authors: Patrizia Tarugi; Maurizio Averna
Journal: Adv Clin Chem Date: 2011 Impact factor: 5.394

5. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

Authors: Roeland Huijgen; Barbara Sjouke; Kelly Vis; Janine S E de Randamie; Joep C Defesche; John J P Kastelein; G Kees Hovingh; Sigrid W Fouchier
Journal: Hum Mutat Date: 2011-12-22 Impact factor: 4.878

6. Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.

Authors: A Oppenheim; Y Friedlander; E J Dann; N Berkman; S P Schwartz; E Leitersdorf
Journal: Hum Genet Date: 1991-11 Impact factor: 4.132

7. Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains.

Authors: M A Lehrman; W J Schneider; T C Südhof; M S Brown; J L Goldstein; D W Russell
Journal: Science Date: 1985-01-11 Impact factor: 47.728

8. Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors.

Authors: H H Hobbs; E Leitersdorf; C C Leffert; D R Cryer; M S Brown; J L Goldstein
Journal: J Clin Invest Date: 1989-08 Impact factor: 14.808

9. Biological, clinical and population relevance of 95 loci for blood lipids.

Authors: Tanya M Teslovich; Kiran Musunuru; Albert V Smith; Andrew C Edmondson; Ioannis M Stylianou; Masahiro Koseki; James P Pirruccello; Samuli Ripatti; Daniel I Chasman; Cristen J Willer; Christopher T Johansen; Sigrid W Fouchier; Aaron Isaacs; Gina M Peloso; Maja Barbalic; Sally L Ricketts; Joshua C Bis; Yurii S Aulchenko; Gudmar Thorleifsson; Mary F Feitosa; John Chambers; Marju Orho-Melander; Olle Melander; Toby Johnson; Xiaohui Li; Xiuqing Guo; Mingyao Li; Yoon Shin Cho; Min Jin Go; Young Jin Kim; Jong-Young Lee; Taesung Park; Kyunga Kim; Xueling Sim; Rick Twee-Hee Ong; Damien C Croteau-Chonka; Leslie A Lange; Joshua D Smith; Kijoung Song; Jing Hua Zhao; Xin Yuan; Jian'an Luan; Claudia Lamina; Andreas Ziegler; Weihua Zhang; Robert Y L Zee; Alan F Wright; Jacqueline C M Witteman; James F Wilson; Gonneke Willemsen; H-Erich Wichmann; John B Whitfield; Dawn M Waterworth; Nicholas J Wareham; Gérard Waeber; Peter Vollenweider; Benjamin F Voight; Veronique Vitart; Andre G Uitterlinden; Manuela Uda; Jaakko Tuomilehto; John R Thompson; Toshiko Tanaka; Ida Surakka; Heather M Stringham; Tim D Spector; Nicole Soranzo; Johannes H Smit; Juha Sinisalo; Kaisa Silander; Eric J G Sijbrands; Angelo Scuteri; James Scott; David Schlessinger; Serena Sanna; Veikko Salomaa; Juha Saharinen; Chiara Sabatti; Aimo Ruokonen; Igor Rudan; Lynda M Rose; Robert Roberts; Mark Rieder; Bruce M Psaty; Peter P Pramstaller; Irene Pichler; Markus Perola; Brenda W J H Penninx; Nancy L Pedersen; Cristian Pattaro; Alex N Parker; Guillaume Pare; Ben A Oostra; Christopher J O'Donnell; Markku S Nieminen; Deborah A Nickerson; Grant W Montgomery; Thomas Meitinger; Ruth McPherson; Mark I McCarthy; Wendy McArdle; David Masson; Nicholas G Martin; Fabio Marroni; Massimo Mangino; Patrik K E Magnusson; Gavin Lucas; Robert Luben; Ruth J F Loos; Marja-Liisa Lokki; Guillaume Lettre; Claudia Langenberg; Lenore J Launer; Edward G Lakatta; Reijo Laaksonen; Kirsten O Kyvik; Florian Kronenberg; Inke R König; Kay-Tee Khaw; Jaakko Kaprio; Lee M Kaplan; Asa Johansson; Marjo-Riitta Jarvelin; A Cecile J W Janssens; Erik Ingelsson; Wilmar Igl; G Kees Hovingh; Jouke-Jan Hottenga; Albert Hofman; Andrew A Hicks; Christian Hengstenberg; Iris M Heid; Caroline Hayward; Aki S Havulinna; Nicholas D Hastie; Tamara B Harris; Talin Haritunians; Alistair S Hall; Ulf Gyllensten; Candace Guiducci; Leif C Groop; Elena Gonzalez; Christian Gieger; Nelson B Freimer; Luigi Ferrucci; Jeanette Erdmann; Paul Elliott; Kenechi G Ejebe; Angela Döring; Anna F Dominiczak; Serkalem Demissie; Panagiotis Deloukas; Eco J C de Geus; Ulf de Faire; Gabriel Crawford; Francis S Collins; Yii-der I Chen; Mark J Caulfield; Harry Campbell; Noel P Burtt; Lori L Bonnycastle; Dorret I Boomsma; S Matthijs Boekholdt; Richard N Bergman; Inês Barroso; Stefania Bandinelli; Christie M Ballantyne; Themistocles L Assimes; Thomas Quertermous; David Altshuler; Mark Seielstad; Tien Y Wong; E-Shyong Tai; Alan B Feranil; Christopher W Kuzawa; Linda S Adair; Herman A Taylor; Ingrid B Borecki; Stacey B Gabriel; James G Wilson; Hilma Holm; Unnur Thorsteinsdottir; Vilmundur Gudnason; Ronald M Krauss; Karen L Mohlke; Jose M Ordovas; Patricia B Munroe; Jaspal S Kooner; Alan R Tall; Robert A Hegele; John J P Kastelein; Eric E Schadt; Jerome I Rotter; Eric Boerwinkle; David P Strachan; Vincent Mooser; Kari Stefansson; Muredach P Reilly; Nilesh J Samani; Heribert Schunkert; L Adrienne Cupples; Manjinder S Sandhu; Paul M Ridker; Daniel J Rader; Cornelia M van Duijn; Leena Peltonen; Gonçalo R Abecasis; Michael Boehnke; Sekar Kathiresan
Journal: Nature Date: 2010-08-05 Impact factor: 49.962

10. Familial hypercholesterolemia: the lipids or the genes?

Authors: Akl C Fahed; Georges M Nemer
Journal: Nutr Metab (Lond) Date: 2011-04-22 Impact factor: 4.169

4 in total

1. Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

Authors: Akl C Fahed; Ruby Khalaf; Rony Salloum; Rabih R Andary; Raya Safa; Inaam El-Rassy; Elie Moubarak; Sami T Azar; Fadi F Bitar; Georges Nemer
Journal: Mol Genet Genomic Med Date: 2016-02-24 Impact factor: 2.183

Review 2. Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Authors: Sami Bizzari; Pratibha Nair; Asha Deepthi; Sayeeda Hana; Mahmoud Taleb Al-Ali; André Megarbané; Stephany El-Hayek
Journal: Genes (Basel) Date: 2021-09-27 Impact factor: 4.096

3. The power comparison of the haplotype-based collapsing tests and the variant-based collapsing tests for detecting rare variants in pedigrees.

Authors: Wei Guo; Yin Yao Shugart
Journal: BMC Genomics Date: 2014-07-28 Impact factor: 3.969

4. Variable and Severe Phenotypic Expression of the "Lebanese Allele" in Two Sisters with Familial Hypercholesterolemia.

Authors: Johnny Chahine; Sarah Kreykes; Jeremy R Van't Hof; Daniel Duprez; Prabhjot Nijjar
Journal: Vasc Health Risk Manag Date: 2021-07-21

4 in total