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R Solomon-Zemler Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel

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L Basel-Vanagaite Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel
Felsenstein Medical Research Center, Petach Tikva, Israel
Pediatric Genetics, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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D Steier Day Hospitalization Department, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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S Yakar David B. Kriser Dental Center, Department of Basic Science and Craniofacial Biology, New York University College of Dentistry, New York, New York, USA

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E Mel Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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M Phillip Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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L Bazak Raphael Recanati Genetic Institute, Rabin Medical Center – Beilinson Hospital, Petach Tikva, Israel

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D Bercovich Tel-Hai College, Tel-Hai, Israel

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H Werner Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Shalom and VardaYoran Institute for Human Genome Research, Tel Aviv University, Tel Aviv, Israel

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L de Vries Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Jesse Z. and Sara Lea Shafer Institute for Endocrinology and Diabetes, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel

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–Silver was negative. Molecular analysis Molecular evaluation of the IGF1R gene revealed a novel heterozygous c.94 + 1g>, a mutation affecting splicing of the mRNA. The mother and maternal grandmother are carriers of the same mutation. The maternal

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0038
Volume/Issue:
Volume 6: Issue 6
Open access
Peng Fan Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Chao-Xia Lu McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Di Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Kun-Qi Yang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Pei-Pei Lu Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Ying Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xu Meng Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Su-Fang Hao Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Fang Luo Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Ya-Xin Liu Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Hui-Min Zhang Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lei Song Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Jun Cai Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xue Zhang McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xian-Liang Zhou Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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PA was corrected by genetic analysis. A novel SCNN1B frameshift mutation was identified, confirming the diagnosis of LS. Screening of four generations of the family members and the use of tailored medicine for LS patients provide better management

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0484
Volume/Issue:
Volume 7: Issue 12
Open access
Marianne C Astor Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Kristian Løvås Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Anette S B Wolff Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Bjørn Nedrebø Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Eirik Bratland Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Jon Steen-Johnsen Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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Eystein S Husebye Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway
Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

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exhibited mutations in the TRPM6 gene ( Fig. 2 ). Four novel mutations and one deletion were identified ( Table 1 ). F1.1 had two novel missense mutations in exons 22 and 23 respectively and was homozygous for both mutations. Copy number analysis revealed

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0066
Volume/Issue:
Volume 4: Issue 4
Open access
Ingeborg Brønstad Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Lars Breivik Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Paal Methlie Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Anette S B Wolff Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Eirik Bratland Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Ingrid Nermoen Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Kristian Løvås Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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Eystein S Husebye Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway
Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

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, relative to wt ( Table 3 )). The novel CAH mutations, p.L388R and p.E140K, displayed significantly ( P <0.05) reduced activity of 1.1 and 11.3% compared with wt respectively ( Table 3 ). The other two novel CAH variants, p.P45L and p.V211M, were similar to

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0032
Volume/Issue:
Volume 3: Issue 2
Open access
Lijuan Yuan Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China
Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Xihui Chen Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Ziyu Liu Department of Microbiology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Dan Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Jianguo Lu Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Guoqiang Bao Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Sijia Zhang Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Lifeng Wang Department of Biochemistry and Molecular Biology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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Yuanming Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

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. A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy . Clinical and Experimental Rheumatology 2010 28 153 – 157 . 20406614 15 Tariq M Azeem Z Ali G Chishti MS Ahmad W. Mutation in the

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0326
Volume/Issue:
Volume 7: Issue 11
Open access
Lanping Jiang Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Department of Nephrology & Key Laboratory of Nephrology, National Health Commission and Guangdong Province, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China

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Xiaoyan Peng Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
Renal Division, Children’s Hospital Affiliated to Capital Institute of Pediatrics, Beijing, China

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Bingbin Zhao Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lei Zhang Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Lubin Xu Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xuemei Li Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Min Nie Department of Endocrinology & Key Laboratory of Endocrinology, National Health and Family Planning Commission, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Limeng Chen Department of Nephrology, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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, 21 , 22 , 23 ) and GS mimic mouse models ( 24 , 25 ) and thiazide test ( 13 , 17 , 26 , 27 ) in vivo , the functional characteristics of the most frequent NCC mutations and novel mutations of Chinese patients remain unknown. Few studies

Article Type:
Research Article
Collections:
Cardiovascular
DOI:
https://doi.org/10.1530/EC-21-0262
Volume/Issue:
Volume 11: Issue 1
Open access
Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

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Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

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Davide Carvalho Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de São João e Faculdade de Medicina do Porto, Instituto de Investigação e Inovação em Saúde da Universidade do Porto, Porto, Portugal

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Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

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prevalence of GNRHR mutations in this cohort was 12.5% (five out of 40 patients with nCHH), which is consistent with results presented in other studies ( 6 ). Four patients had biallelic mutations (including two patients with a novel frameshift deletion

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
Barbora Pekova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Sarka Dvorakova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Vlasta Sykorova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Gabriela Vacinova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Eliska Vaclavikova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Jitka Moravcova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Rami Katra Department of Ear, Nose and Throat, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Petr Vlcek Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Pavla Sykorova Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Daniela Kodetova Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague 5, Czech Republic

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Josef Vcelak Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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Bela Bendlova Department of Molecular Endocrinology, Institute of Endocrinology, Prague 1, Czech Republic

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investigated genes. In the Thyroid Cancer Genome Atlas (TCGA) project, genetic alterations of 496 PTCs were detected and mutations in the CHEK2 , PPM1D and EIF1AX genes were identified as the novel PTC-causing genes. If these genes play a role in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0069
Volume/Issue:
Volume 8: Issue 6
Open access
Paula Bruna Araujo Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Diagnósticos da América SA, Rio de Janeiro, Rio de Janeiro, Brazil

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Leandro Kasuki Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Endocrinology Unit, Hospital Federal de Bonsucesso, Rio de Janeiro, Rio de Janeiro, Brazil

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Carlos Henrique de Azeredo Lima Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Liana Ogino Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Aline H S Camacho Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
National Cancer Institute, Rio de Janeiro, Rio de Janeiro, Brazil

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Leila Chimelli Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine, Queen Mary University of London, Charterhouse Square, London, UK

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Monica R Gadelha Department of Internal Medicine and Endocrine Unit, Medical School and Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Rio de Janeiro, Brazil
Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil
Neuroendocrinology Unit, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

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mutations and other genetic and/or epigenetic abnormalities have been related to SPA, but a minor subgroup of these adenomas can have a germline mutation in a predisposing gene with no known familial history of pituitary adenoma ( 2 ). Germline aryl

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0237
Volume/Issue:
Volume 6: Issue 8
Open access
Jingci Chen Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Yan Wu Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Pengyan Wang Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Huanwen Wu Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Anli Tong Department of Endocrinology, Key Laboratory of Endocrinology, National Health Commission of the People’s Republic of China, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Xiaoyan Chang Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China

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Journal of Surgical Pathology 2019 27 282 – 289 . ( https://doi.org/10.1177/1066896918799940 ) 33 Pozza C Sesti F Di Dato C Sbardella E Pofi R Schiavi F Bonifacio V Isidori AM Faggiano A Lenzi A A novel MAX gene mutation

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0300
Volume/Issue:
Volume 10: Issue 8
Open access