ArticleInternational journal of molecular sciences2024
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.7field-weighted citation impact, top 37% 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
2 citing papers in PubMed, 2 citations in OpenAlex.
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
17 authors at 5 institutions in 2 countries.
Nikoletta NagyDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0001-8576-7953
Margit PalDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.ORCID 0000-0003-3662-0837
Jozsef KunHungarian Centre for Genomics and Bioinformatics, Szentagothai Research Centre, University of Pecs, 7624 Pecs, Hungary.
Bence GalikHungarian Centre for Genomics and Bioinformatics, Szentagothai Research Centre, University of Pecs, 7624 Pecs, Hungary.ORCID 0000-0002-3949-7005
Peter UrbanHungarian Centre for Genomics and Bioinformatics, Szentagothai Research Centre, University of Pecs, 7624 Pecs, Hungary.ORCID 0000-0003-4043-3428
Marta MedveczDepartment of Dermatology, Venereology and Dermatooncology, Semmelweis University, 1095 Budapest, Hungary.ORCID 0000-0002-3126-096X
Beata FabosMor Kaposi Teaching Hospital of Somogy County, 7400 Kaposvar, Hungary.
Alexandra NellerDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Aliasgari AbdolrezaDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Judit DanisHUN-REN-SZTE Dermatological Research Group, 6720 Szeged, Hungary.ORCID 0000-0002-0270-5309
Viktoria SzaboDepartment of Ophthalmology, Semmelweis University, 1085 Budapest, Hungary.
Zhuo YangDepartment of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
Stefanie FenskeDepartment of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.ORCID 0000-0002-6994-8401
Martin BielDepartment of Pharmacy, Center for Drug Research, Ludwig-Maximilians-Universität München, 81377 Munich, Germany.
Attila GyeneseiHungarian Centre for Genomics and Bioinformatics, Szentagothai Research Centre, University of Pecs, 7624 Pecs, Hungary.
Eva AdamDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
Marta SzellDepartment of Medical Genetics, University of Szeged, 6720 Szeged, Hungary.
University of Szeged · HUUniversity of Pecs · HULudwig-Maximilians-Universität München · DESemmelweis University · HUSomogy Megyei Kaposi Mór Oktató Kórház · HU
Funding
Deutsche Forschungsgemeinschaft TRR152 P12National Research, Development and Innovation Office of Hungary EFOP-3.6.1-16-2016-00008National Research, Development and Innovation Office of Hungary FK131916National Research, Development and Innovation Office of Hungary GINOP-2.3.1-20-2020-00001National Research, Development and Innovation Office of Hungary GINOP-2.3.2-15-2016-00039National Research, Development and Innovation Office of Hungary GINOP-2.3.4-15-2020-00010National Research, Development and Innovation Office of Hungary K146130National Research, Development and Innovation Office of Hungary TKP-2021-EGA-13
6 · The paper itself
Abstract
Albinism is characterized by a variable degree of hypopigmentation affecting the skin and the hair, and causing ophthalmologic abnormalities. Its oculocutaneous, ocular and syndromic forms follow an autosomal or X-linked recessive mode of inheritance, and 22 disease-causing genes are implicated in their development. Our aim was to clarify the genetic background of a Hungarian albinism cohort. Using a 22-gene albinism panel, the genetic background of 11 of the 17 Hungarian patients was elucidated. In patients with unidentified genetic backgrounds (
Indexed as
AlbinismMembrane Transport ProteinsAdolescentGenetic BackgroundHumansHungaryMaleMutationMembrane Transport Proteinsalbinismdigenic inheritancemissing heritabilityTPCN2 gene
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.
Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease. · full record | OpenQuestion