LINKS TO HLRCC RESEARCH - Rarer Conditions and Miscellaneous Links

2014

Germline FH Mutations Presenting With Pheochromocytoma Graeme R. Clark, Marco Sciacovelli, Edoardo Gaude, Diana M. Walsh, Gail Kirby, Michael A. Simpson, Richard C. Trembath, Jonathan N. Berg, Emma R. Woodward, Esther Kinning, Patrick J. Morrison, Christian Frezza, and Eamonn R. Maher, 2014

The link is to the abstract, the full article is available on subscription.

2013

Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas Luis Jaime Castro-Vega, Alexandre Buffet, Aguirre A. de Cubas, Alberto Cascón, Mélanie Menara, Emmanuel Khalifa, Laurence Amar, Sharona Azriel, Isabelle Bourdeau, Olivier Chabre, Maria Currás-Freixes, Valérie Franco-Vidal, Marine Guillaud-Bataille, Christophe Simian, Aurélie Morin, Rocío Letón, Álvaro Gómez-Graña, Patrick J. Pollard, Pierre Rustin, Mercedes Robledo, Judith Favier and Anne-Paule Gimenez-Roqueplo, 2013

The link is to the abstract, the full article is available on subscription.

2010

Male Infertility: Genetic Link with HLRCC Erika Tabke, 2010

There is not a lot of information in this link. Dr. McKelvey's team conducted a comprehensive case study to better understand the link between HLRCC and male infertility. Male infertility has not previously been linked to this disease. It is of interest to indicate that there may be other conditions associated with HLRCC.

2009

A Novel Role of Fumarate Metabolism in Dahl-Salt Sensitive Hypertension Zhongmin Tian, Yong Liu, Kristie Usa, Domagoj Mladinov, Yi Fang,Xiaoqiang Ding, Andrew S. Greene, Allen W. Cowley, Jr., and Mingyu Liang, 2009

An article relating high blood pressure with high fumarate levels for salt related blood pressure.

Origin and Molecular Pathology of Adrenocortical Neoplasms M. Bielinska, H. Parviainen, S. Kiiveri, M. Heikinheimo, and D.B. Wilson, 2009

Massive Macronodular Adrenocortical Disease (MMAD) is another rare condition thought to be related to HLRCC.

2007

Cerebral Cavernomas in a Family with Multiple Cutaneous and Uterine Leiomyomas Associated with a New Mutation in the Fumarate Hydratase Gene Elena Campione, Alessandro Terrinoni, Augusto Orlandi, Andrea Codispoti, Gerry Melino, Luca Bianchi, Annamaria Mazzotta, Francesco Giuseppe Garaci, Andrea Ludovici, and Sergio Chimenti, 2007

Cerebral Cavernomas is another rare condition thought to be related to HLRCC.

2006

Adult Leydig Cell Tumors of the Testis Caused by Germline Fumarate Hydratase Mutations Luis G. Carvajal-Carmona, N. Afrina Alam, Patrick J. Pollard, Angela M. Jones, Ella Barclay, Noel Wortham, Massimo Pignatelli, Alex Freeman, Sabine Pomplun, Ian Ellis, Richard Poulsom, Mona A. El-Bahrawy, Daniel M. Berney, and Ian P. M. Tomlinson, 2006

The link is to the article abstract. The full article PDF is available on subscription. This describes that some testicular cancer is directly related to FH mutations.

Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma Sanna K Ylisaukko-oja, Cezary Cybulski, Rainer Lehtonen, Maija Kiuru, Joanna Matyjasik, Anna Szymañska, Jolanta Szymañska-Pasternak, Lars Dyrskjot, Ralf Butzow, Torben F Orntoft, Virpi Launonen, Jan Lubiñski and Lauri A Aaltonen, 2006

This article describes the finding of benign ovarian mucinous cystadenoma in two families with FH mutations (HLRCC and Fumarase Deficiency).

2003

Multiple familial cutaneous leiomyoma Cairey-Remonnay S, Salard D, Algros MP, Laurent R. ,2003

This is link to an abstract of an article in English. The full text in French is available on subscription. It is of interest because of indicating a possible link between HLRCC and polycythemia and also myeloid leukemia.

VOLUME V INDUSTRIAL PRODUCTION WITH IMMOBILIZED ENZYMES: ANTIBIOTICS, FOOD ADDITIVES AND DAIRY PRODUCTS ~1980

This describes fumarase as used in food production. We are what we eat!

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Last modified: April 26 2016 19:30:19.