KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
- Submitting institution
-
The University of Huddersfield
- Unit of assessment
- 5 - Biological Sciences
- Output identifier
- 34
- Type
- D - Journal article
- DOI
-
10.15252/emmm.201607376
- Title of journal
- EMBO Molecular Medicine
- Article number
- -
- First page
- 1379
- Volume
- 9
- Issue
- 10
- ISSN
- 1757-4676
- Open access status
- Compliant
- Month of publication
- July
- Year of publication
- 2017
- URL
-
-
- Supplementary information
-
-
- Request cross-referral to
- -
- Output has been delayed by COVID-19
- No
- COVID-19 affected output statement
- -
- Forensic science
- No
- Criminology
- No
- Interdisciplinary
- No
- Number of additional authors
-
25
- Research group(s)
-
-
- Citation count
- 33
- Proposed double-weighted
- No
- Reserve for an output with double weighting
- No
- Additional information
- -
- Author contribution statement
- Dr Kinnunen contributed substantially to the study and the manuscript. Dr Kinnunen made the transgenic C. elegans, analysed the phenotypic outcomes and interpretated the data. Data presented in Figure 2(F, G) was produced by Dr Kinnunen. C. elegans analyses were fundamental to the study confirming the genetic KLB variants as loss-of-function, hence mice experiments could be done using Klb knockout mice. Dr Kinnunen wrote the results section ‘KLB mutants fail to rescue KLB homolog function in Caenorhabditis elegans’ and the methods section ’Caenorhabditis elegans studies’. Dr Kinnunen also contributed through out manuscript preparation by providing critical comments and intellectual input.
- Non-English
- No
- English abstract
- -
