Evidence map›Paper›PMID 39457042›Full record

ArticleInternational journal of molecular sciences2024

Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.

Anastasia M Bobreshova, Sofya A Ionova, Vitaly V Kadyshev, Natella V Sukhanova, Iuliia V Viakhireva, Alexandra Yu Filatova, Natalia V Zhurkova, Peter A Sparber, Andrey V Marakhonov, Tatyana A Vasilyeva and 3 more

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PubMed Full text at PMC Publisher
In one paragraph

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
–field-weighted citation impact
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.

  1. Review
  2. Article
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

13 authors.

Anastasia M BobreshovaResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0009-0001-3476-053X
Sofya A IonovaResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.
Vitaly V KadyshevResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0001-7765-3307
Natella V SukhanovaResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0003-4371-775X
Iuliia V ViakhirevaResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0002-8827-4756
Alexandra Yu FilatovaResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0002-5979-0727
Natalia V ZhurkovaPetrovsky National Research Center of Surgery, Fotieva Street, 10, Moscow 119333, Russia.
Peter A SparberResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0002-9160-0794
Andrey V MarakhonovResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0002-0972-5118
Tatyana A VasilyevaResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0002-6744-0567
Olga A ShchaginaResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0003-4905-1303
Sergey I KutsevResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.
Rena A ZinchenkoResearch Centre for Medical Genetics, Moskvorechie Street, 1, Moscow 115522, Russia.ORCID 0000-0003-3586-3458

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding disorder, and visual abnormalities. Eleven patients from eight unrelated families with an incoming diagnosis of albinism were examined and novel and previously described genetic variants in

Indexed as

Hermanski-Pudlak SyndromeAdolescentAdultAlbinismChildChild, PreschoolFemaleHumansInfantIntracellular Signaling Peptides and ProteinsMaleMembrane ProteinsMutationHPS1 protein, humanHPS6 protein, humanIntracellular Signaling Peptides and ProteinsMembrane ProteinsalbinismHermansky–Pudlak syndromeocular albinismophthalmologyRNA analysiswhole-exome sequencing

Identifiers

PMID39457042
PMCPMC11508982

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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.