Filter

Refine by collections

Refine by date

—
  • Print
  • Save

Search Results

You are looking at 1 - 10 of 57 items for :

  • "novel mutations" x
Clear All
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

Search for other papers by Marianne C Astor in
Google Scholar
PubMed Close
,
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

Search for other papers by Kristian Løvås in
Google Scholar
PubMed Close
,
Anette S B Wolff Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Anette S B Wolff in
Google Scholar
PubMed Close
,
Bjørn Nedrebø Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Bjørn Nedrebø in
Google Scholar
PubMed Close
,
Eirik Bratland Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Eirik Bratland in
Google Scholar
PubMed Close
,
Jon Steen-Johnsen Department of Clinical Science, Department of Medicine, Department of Medicine, Pediatric Department, University of Bergen, Bergen, Norway

Search for other papers by Jon Steen-Johnsen in
Google Scholar
PubMed Close
, and
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

Search for other papers by Eystein S Husebye in
Google Scholar
PubMed Close

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

Search for other papers by Ingeborg Brønstad in
Google Scholar
PubMed Close
,
Lars Breivik Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

Search for other papers by Lars Breivik in
Google Scholar
PubMed Close
,
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

Search for other papers by Paal Methlie in
Google Scholar
PubMed Close
,
Anette S B Wolff Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

Search for other papers by Anette S B Wolff in
Google Scholar
PubMed Close
,
Eirik Bratland Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

Search for other papers by Eirik Bratland in
Google Scholar
PubMed Close
,
Ingrid Nermoen Department of Clinical Science, Department of Medicine, Division of Medicine, University of Bergen, 5021 Bergen, Norway

Search for other papers by Ingrid Nermoen in
Google Scholar
PubMed Close
,
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

Search for other papers by Kristian Løvås in
Google Scholar
PubMed Close
, and
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

Search for other papers by Eystein S Husebye in
Google Scholar
PubMed Close

In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population of patients with CAH, of which p.L388R and p.E140K were associated with salt wasting (SW), p.P45L with simple virilising (SV) and p.V211M+p.V281L with SV to non-classical (NC) phenotypes. We aimed to characterise the novel variants functionally utilising a newly designed in vitro assay of 21OH enzyme activity and structural simulations and compare the results with clinical phenotypes. CYP21A2 mutations and variants were expressed in vitro. Enzyme activity was assayed by assessing the conversion of 17-hydroxyprogesterone to 11-deoxycortisol by liquid chromatography tandem mass spectroscopy. PyMOL 1.3 was used for structural simulations, and PolyPhen2 and PROVEAN for predicting the severity of the mutants. The CYP21A2 mutants, p.L388R and p.E140K, exhibited 1.1 and 11.3% of wt 21OH enzyme activity, respectively, in vitro. We could not detect any functional deficiency of the p.P45L variant in vitro; although prediction tools suggest p.P45L to be pathogenic. p.V211M displayed enzyme activity equivalent to the wt in vitro, which was supported by in silico analyses. We found good correlations between phenotype and the in vitro enzyme activities of the SW mutants, but not for the SV p.P45L variant. p.V211M might have a synergistic effect together with p.V281L, explaining a phenotype between SV and NC CAH.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0032
Volume/Issue:
Volume 3: Issue 2
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

Search for other papers by Lanping Jiang in
Google Scholar
PubMed Close
,
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

Search for other papers by Xiaoyan Peng in
Google Scholar
PubMed Close
,
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

Search for other papers by Bingbin Zhao in
Google Scholar
PubMed Close
,
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

Search for other papers by Lei Zhang in
Google Scholar
PubMed Close
,
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

Search for other papers by Lubin Xu in
Google Scholar
PubMed Close
,
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

Search for other papers by Xuemei Li in
Google Scholar
PubMed Close
,
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

Search for other papers by Min Nie in
Google Scholar
PubMed Close
, and
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

Search for other papers by Limeng Chen in
Google Scholar
PubMed Close

, 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
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

Search for other papers by Paula Bruna Araujo in
Google Scholar
PubMed Close
,
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

Search for other papers by Leandro Kasuki in
Google Scholar
PubMed Close
,
Carlos Henrique de Azeredo Lima Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

Search for other papers by Carlos Henrique de Azeredo Lima in
Google Scholar
PubMed Close
,
Liana Ogino Molecular Genetics Laboratory, Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

Search for other papers by Liana Ogino in
Google Scholar
PubMed Close
,
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

Search for other papers by Aline H S Camacho in
Google Scholar
PubMed Close
,
Leila Chimelli Neuropathology Laboratory Instituto Estadual do Cérebro Paulo Niemeyer, Rio de Janeiro, Rio de Janeiro, Brazil

Search for other papers by Leila Chimelli in
Google Scholar
PubMed Close
,
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

Search for other papers by Márta Korbonits in
Google Scholar
PubMed Close
, and
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

Search for other papers by Monica R Gadelha in
Google Scholar
PubMed Close

Aryl hydrocarbon receptor-interacting protein (AIP) gene mutations (AIPmut) are the most frequent germline mutations found in apparently sporadic pituitary adenomas (SPA). Our aim was to evaluate the frequency of AIPmut among young Brazilian patients with SPA. We performed an observational cohort study between 2013 and 2016 in a single referral center. AIPmut screening was carried out in 132 SPA patients with macroadenomas diagnosed up to 40 years or in adenomas of any size diagnosed until 18 years of age. Twelve tumor samples were also analyzed. Leukocyte DNA and tumor tissue DNA were sequenced for the entire AIP-coding region for evaluation of mutations. Eleven (8.3%) of the 132 patients had AIPmut, comprising 9/74 (12%) somatotropinomas, 1/38 (2.6%) prolactinoma, 1/10 (10%) corticotropinoma and no non-functioning adenomas. In pediatric patients (≤18 years), AIPmut frequency was 13.3% (2/15). Out of the 5 patients with gigantism, two had AIPmut, both truncating mutations. The Y268* mutation was described in Brazilian patients and the K273Rfs*30 mutation is a novel mutation in our patient. No somatic AIP mutations were found in the 12 tumor samples. A tumor sample from an acromegaly patient harboring the A299V AIPmut showed loss of heterozygosity. In conclusion, AIPmut frequency in SPA Brazilian patients is similar to other populations. Our study identified two mutations exclusively found in Brazilians and also shows, for the first time, loss of heterozygosity in tumor DNA from an acromegaly patient harboring the A299V AIPmut. Our findings corroborate previous observations that AIPmut screening should be performed in young patients with SPA.

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0237
Volume/Issue:
Volume 6: Issue 8
Open access
Hiren Patt Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Hiren Patt in
Google Scholar
PubMed Close
,
Katrin Koehler Department of Paediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Search for other papers by Katrin Koehler in
Google Scholar
PubMed Close
,
Sailesh Lodha Eternal Hospital, Jaipur, Rajasthan, India

Search for other papers by Sailesh Lodha in
Google Scholar
PubMed Close
,
Swati Jadhav Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Swati Jadhav in
Google Scholar
PubMed Close
,
Chaitanya Yerawar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Chaitanya Yerawar in
Google Scholar
PubMed Close
,
Angela Huebner Department of Paediatrics, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany

Search for other papers by Angela Huebner in
Google Scholar
PubMed Close
,
Kunal Thakkar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Kunal Thakkar in
Google Scholar
PubMed Close
,
Sneha Arya Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Sneha Arya in
Google Scholar
PubMed Close
,
Sandhya Nair Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Sandhya Nair in
Google Scholar
PubMed Close
,
Manjunath Goroshi Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Manjunath Goroshi in
Google Scholar
PubMed Close
,
Hosahithlu Ganesh Department of Endocrinology, AJ Institute of Medical sciences, Mangalore, India

Search for other papers by Hosahithlu Ganesh in
Google Scholar
PubMed Close
,
Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bengaluru, India

Search for other papers by Vijaya Sarathi in
Google Scholar
PubMed Close
,
Anurag Lila Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Anurag Lila in
Google Scholar
PubMed Close
,
Tushar Bandgar Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Tushar Bandgar in
Google Scholar
PubMed Close
, and
Nalini Shah Department of Endocrinology, Seth G.S. Medical College & KEM Hospital, Mumbai, Maharashtra, India

Search for other papers by Nalini Shah in
Google Scholar
PubMed Close

AAAS gene ( Fig. 1 ). Five patients had mutations in homozygous state, two patients in compound heterozygous state while one patient (patient 8) was heterozygous for a novel mutation (Supplementary Table 1). A previously reported frameshift mutation in

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0255
Volume/Issue:
Volume 6: Issue 8
Open access
L A Hughes West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by L A Hughes in
Google Scholar
PubMed Close
,
K McKay-Bounford West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by K McKay-Bounford in
Google Scholar
PubMed Close
,
E A Webb Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by E A Webb in
Google Scholar
PubMed Close
,
P Dasani West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by P Dasani in
Google Scholar
PubMed Close
,
S Clokie West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by S Clokie in
Google Scholar
PubMed Close
,
H Chandran Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by H Chandran in
Google Scholar
PubMed Close
,
L McCarthy Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by L McCarthy in
Google Scholar
PubMed Close
,
Z Mohamed Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by Z Mohamed in
Google Scholar
PubMed Close
,
J M W Kirk Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by J M W Kirk in
Google Scholar
PubMed Close
,
N P Krone Department of Endocrinology & Diabetes, Birmingham Women’s and Children’s Hospital, Birmingham, UK

Search for other papers by N P Krone in
Google Scholar
PubMed Close
,
S Allen West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by S Allen in
Google Scholar
PubMed Close
, and
T R P Cole West Midlands Regional Genetics Service, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK

Search for other papers by T R P Cole in
Google Scholar
PubMed Close

diagnosis of a 46,XY DSD. Novel mutation 4 XY p F ?46,XY DSD HSD17B3 c.614T>A p.(Val205Glu) P c.645A>T p.(Glu215Asp) P Supports diagnosis of 46,XY DSD due to HSD17B3 deficiency 5 XY p F ?46,XY DSD HSD17B3 c.194C>T p.(Ser65

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0376
Volume/Issue:
Volume 8: Issue 2
Open access
Marilena Nakaguma Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Marilena Nakaguma in
Google Scholar
PubMed Close
,
Fernanda A Correa Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Fernanda A Correa in
Google Scholar
PubMed Close
,
Lucas S Santana Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Lucas S Santana in
Google Scholar
PubMed Close
,
Anna F F Benedetti Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Anna F F Benedetti in
Google Scholar
PubMed Close
,
Ricardo V Perez Serviço de Endocrinologia, Hospital do Servidor Público Estadual de São Paulo, Instituto de Assistência Médica ao Servidor Público Estadual (HSPE-IAMSPE), São Paulo, Brasil

Search for other papers by Ricardo V Perez in
Google Scholar
PubMed Close
,
Martha K P Huayllas Hospital de Transplantes Euryclides de Jesus Zerbini, São Paulo, Brasil

Search for other papers by Martha K P Huayllas in
Google Scholar
PubMed Close
,
Mirta B Miras Hospital de Niños Santísima Trinidad, Cordoba, Argentina

Search for other papers by Mirta B Miras in
Google Scholar
PubMed Close
,
Mariana F A Funari Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Mariana F A Funari in
Google Scholar
PubMed Close
,
Antonio M Lerario Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Antonio M Lerario in
Google Scholar
PubMed Close
,
Berenice B Mendonca Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Berenice B Mendonca in
Google Scholar
PubMed Close
,
Luciani R S Carvalho Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Luciani R S Carvalho in
Google Scholar
PubMed Close
,
Alexander A L Jorge Unidade de Endocrinologia Genética, Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Alexander A L Jorge in
Google Scholar
PubMed Close
, and
Ivo J P Arnhold Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil

Search for other papers by Ivo J P Arnhold in
Google Scholar
PubMed Close

pituitary lobe reveals eight different PROP1 alterations with three novel mutations . Clinical Endocrinology 2017 87 725 – 732 . ( https://doi.org/10.1111/cen.13430 ) 10.1111/cen.13430 28734020 8 Salvatori R Hayashida CY Aguiar-Oliveira MH Phillips

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-19-0085
Volume/Issue:
Volume 8: Issue 5
Open access
Catarina I Gonçalves CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

Search for other papers by Catarina I Gonçalves in
Google Scholar
PubMed Close
,
José M Aragüés Serviço de Endocrinologia, Diabetes e Metabolismo, Hospital de Santa Maria, Lisboa, Portugal

Search for other papers by José M Aragüés in
Google Scholar
PubMed Close
,
Margarida Bastos Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

Search for other papers by Margarida Bastos in
Google Scholar
PubMed Close
,
Luísa Barros Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

Search for other papers by Luísa Barros in
Google Scholar
PubMed Close
,
Nuno Vicente Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, Coimbra, Portugal

Search for other papers by Nuno Vicente in
Google Scholar
PubMed Close
,
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

Search for other papers by Davide Carvalho in
Google Scholar
PubMed Close
, and
Manuel C Lemos CICS-UBI, Health Sciences Research Centre, University of Beira Interior, Covilhã, Portugal

Search for other papers by Manuel C Lemos in
Google Scholar
PubMed Close

: identification and detailed functional characterization of a novel mutation in the gonadotropin-releasing hormone receptor gene . Neuroendocrinology 2006 84 301 – 308 . ( doi:10.1159/000098147 ) 14 Beneduzzi D Trarbach EB Latronico AC

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0104
Volume/Issue:
Volume 6: Issue 6
Open access
Ghazala Zaidi Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Ghazala Zaidi in
Google Scholar
PubMed Close
,
Vijayalakshmi Bhatia Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Vijayalakshmi Bhatia in
Google Scholar
PubMed Close
,
Saroj K Sahoo Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Saroj K Sahoo in
Google Scholar
PubMed Close
,
Aditya Narayan Sarangi Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Aditya Narayan Sarangi in
Google Scholar
PubMed Close
,
Niharika Bharti Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Niharika Bharti in
Google Scholar
PubMed Close
,
Li Zhang Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA

Search for other papers by Li Zhang in
Google Scholar
PubMed Close
,
Liping Yu Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA

Search for other papers by Liping Yu in
Google Scholar
PubMed Close
,
Daniel Eriksson Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden

Search for other papers by Daniel Eriksson in
Google Scholar
PubMed Close
,
Sophie Bensing Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden

Search for other papers by Sophie Bensing in
Google Scholar
PubMed Close
,
Olle Kämpe Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Sweden

Search for other papers by Olle Kämpe in
Google Scholar
PubMed Close
,
Nisha Bharani Department of Endocrinology, Amrita Institute of Medical Sciences, Kochi, India

Search for other papers by Nisha Bharani in
Google Scholar
PubMed Close
,
Surendra Kumar Yachha Departments of Paediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Surendra Kumar Yachha in
Google Scholar
PubMed Close
,
Anil Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

Search for other papers by Anil Bhansali in
Google Scholar
PubMed Close
,
Alok Sachan Department of Endocrinology, Sri Venkateshwara Institute of Medical Sciences, Tirupathi, India

Search for other papers by Alok Sachan in
Google Scholar
PubMed Close
,
Vandana Jain Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India

Search for other papers by Vandana Jain in
Google Scholar
PubMed Close
,
Nalini Shah Department of Endocrinology, King Edward Memorial Hospital, Seth GS Medical College, Mumbai, India

Search for other papers by Nalini Shah in
Google Scholar
PubMed Close
,
Rakesh Aggarwal Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Rakesh Aggarwal in
Google Scholar
PubMed Close
,
Amita Aggarwal Departments of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Amita Aggarwal in
Google Scholar
PubMed Close
,
Muthuswamy Srinivasan Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Muthuswamy Srinivasan in
Google Scholar
PubMed Close
,
Sarita Agarwal Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Sarita Agarwal in
Google Scholar
PubMed Close
, and
Eesh Bhatia Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

Search for other papers by Eesh Bhatia in
Google Scholar
PubMed Close

frequency of the novel AIRE mutation, c.1637G>T, was assessed in 50 healthy subjects by sequencing exon 14. The prevalence of another novel mutation, c.32T>C, was determined in 70 control subjects by PCR-RFLP. A 406-base pair (bp) region of exon 1 was

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0022
Volume/Issue:
Volume 6: Issue 5
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

Search for other papers by Lijuan Yuan in
Google Scholar
PubMed Close
,
Xihui Chen Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Xihui Chen in
Google Scholar
PubMed Close
,
Ziyu Liu Department of Microbiology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Ziyu Liu in
Google Scholar
PubMed Close
,
Dan Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Dan Wu in
Google Scholar
PubMed Close
,
Jianguo Lu Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Jianguo Lu in
Google Scholar
PubMed Close
,
Guoqiang Bao Department of General Surgery, Tangdu Hospital, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Guoqiang Bao in
Google Scholar
PubMed Close
,
Sijia Zhang Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Sijia Zhang in
Google Scholar
PubMed Close
,
Lifeng Wang Department of Biochemistry and Molecular Biology, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Lifeng Wang in
Google Scholar
PubMed Close
, and
Yuanming Wu Department of Biochemistry and Molecular Biology, Center for DNA Typing, Air Force Medical University, Xi’an, Shaanxi, People’s Republic of China

Search for other papers by Yuanming Wu in
Google Scholar
PubMed Close

. ( https://doi.org/10.1007/s00296-009-0895-6 ) 10.1007/s00296-009-0895-6 19306095 17 Yuan L Chen L Liao RX Lin YY Jiang Y Wang O Li M Xing XP Pang QQ Jiajue R , et al . A common mutation and a novel mutation in the HPGD gene in nine patients with

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0326
Volume/Issue:
Volume 7: Issue 11
Open access