Evidence map›Paper›PMID 27014940›Full record

ArticleEndocrinology2016

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration.

B Ian Hutchins, L Damla Kotan, Carol Taylor-Burds, Yusuf Ozkan, Paul J Cheng, Fatih Gurbuz, Jean D R Tiong, Eda Mengen, Bilgin Yuksel, A Kemal Topaloglu and 1 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.

0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed
9.2field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

26 citing papers in PubMed, 54 citations in OpenAlex.

  1. Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026
    Review
  2. Review
  3. De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.Genetics in medicine : official journal of the American College of Medical Genetics · 2026
    Article
  4. Article
  5. Frontiers in endocrinology · 2023
    Article
  6. Genetics of pubertal delay.Clinical endocrinology · 2022
    Review
  7. Article
  8. Saudi journal of biological sciences · 2022
    Article
  9. Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Review
  16. Review
  17. Genetics of human female infertility†.Biology of reproduction · 2019
    Review
  18. Article
  19. Nasal Placode Development, GnRH Neuronal Migration and Kallmann Syndrome.Frontiers in cell and developmental biology · 2019
    Article
  20. The Genetic Basis of Delayed Puberty.Frontiers in endocrinology · 2019
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 4 institutions in 2 countries.

B Ian HutchinsNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
L Damla KotanNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Carol Taylor-BurdsNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Yusuf OzkanNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Paul J ChengNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Fatih GurbuzNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Jean D R TiongNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Eda MengenNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Bilgin YukselNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
A Kemal TopalogluNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Susan WrayNational Institute of Neurological Disorders and Stroke (B.I.H., C.T.-B., P.J.C., J.D.R.T., S.W.), National Institutes of Health, Bethesda, Maryland 20892; Department of Biotechnology (L.D.K., A.K.T.), Institute of Sciences, Cukurova University, 01330 Adana, Turkey; Fırat University (Y.O.), 23119 Elazıg, Turkey; and Division of Pediatric Endocrinology (F.G., E.M., B.Y., A.K.T.), Faculty of Medicine, Cukurova University, 01330 Adana, Turkey.
Cukurova University · TRNational Institute of Neurological Disorders and Stroke · USFırat University · TRNational Institutes of Health · US

Funding

Development And Regulation Of The Luteinizing Hormone Releasing Hormone SystemZIANS002824 · NINDS · NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE · PI WRAY, SUSAN · 2009 to 2025
$41.2M
The Luteinizing Hormone Releasing Hormone SystemZ01NS002824 · NINDS · NEUROLOGICAL DISORDERS AND STROKE · PI WRAY, SUSAN · 1991 to 2008
$4.9M
Intramural NIH HHS Z01 NS002824
6 · The paper itself

Abstract

The first mutation in a gene associated with a neuronal migration disorder was identified in patients with Kallmann Syndrome, characterized by hypogonadotropic hypogonadism and anosmia. This pathophysiological association results from a defect in the development of the GnRH and the olfactory system. A recent genetic screening of Kallmann Syndrome patients revealed a novel mutation in CCDC141. Little is known about CCDC141, which encodes a coiled-coil domain containing protein. Here, we show that Ccdc141 is expressed in GnRH neurons and olfactory fibers and that knockdown of Ccdc141 reduces GnRH neuronal migration. Our findings in human patients and mouse models predict that CCDC141 takes part in embryonic migration of GnRH neurons enabling them to form a hypothalamic neuronal network to initiate pulsatile GnRH secretion and reproductive function.

Indexed as

MutationAnimalsCell MovementGonadotropin-Releasing HormoneHumansKallmann SyndromeMiceNerve Tissue ProteinsNeuronsCCDC141 protein, humanCCDC141 protein, mouseGonadotropin-Releasing HormoneNerve Tissue Proteins

Identifiers

PMID27014940
PMCPMC4870868
OpenAlexW2308747718

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.