Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
1998 3
1999 2
2000 1
2001 2
2002 3
2003 1
2004 3
2005 2
2006 1
2007 1
2008 2
2009 2
2010 1
2011 2
2012 2
2013 1
2014 2
2015 1
2016 3
2017 1
2018 2
2019 4
2021 10
2022 7
2023 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

54 results

Results by year

Filters applied: . Clear all
Page 1
Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants.
Aykut A, Durmaz A, Karaca N, Gulez N, Genel F, Celmeli F, Cogurlu MT, Akcan M, Cicek D, Cipe FE, Kiykim A, Yıldıran A, Unluhizarci K, Kilic SS, Aksu G, Ardeniz O, Kutukculer N. Aykut A, et al. Immunol Res. 2024 Apr 22. doi: 10.1007/s12026-024-09477-6. Online ahead of print. Immunol Res. 2024. PMID: 38644452
According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes including LYST, RAB27A, AP3B1, AP3D1, PRF1, UNC13D, STX11, STXBP2, FAAP24, SLC7A7, RASGRP1, CD70, CTPS1, RLTPR, ITK, MAGT1, PRKCD, TNF …
According to the latest report from the International Union of Immunological Societies (IUIS), PIRDs arise from mutations in various genes i …
Hermansky-Pudlak Syndrome.
Introne WJ, Huizing M, Malicdan MCV, O'Brien KJ, Gahl WA. Introne WJ, et al. 2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jul 24 [updated 2023 May 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301464 Free Books & Documents. Review.
Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1. DIAGNOSIS/TESTING: The clinical diagnosis of HPS can be established in a proband with hypopigmentation of the skin and hair, characteristic eye findings, and demon …
Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1. DIAGNOSIS/TESTING: The …
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.
Candidate variants were validated by Sanger sequencing and assessed in silico. A homozygous, likely pathogenic p.V711I missense variant in AP3D1 segregated with the HL. The family was characterized by thorough medical and laboratory examination. ...Since all previously rep …
Candidate variants were validated by Sanger sequencing and assessed in silico. A homozygous, likely pathogenic p.V711I missense variant in …
Diagnosing Czech Patients with Inherited Platelet Disorders.
Louzil J, Stikarova J, Provaznikova D, Hrachovinova I, Fenclova T, Musil J, Radek M, Kaufmanova J, Geierova V, Ceznerova E, Salaj P, Kotlin R. Louzil J, et al. Int J Mol Sci. 2022 Nov 19;23(22):14386. doi: 10.3390/ijms232214386. Int J Mol Sci. 2022. PMID: 36430862 Free PMC article.
However, next-generation sequencing (NGS), which was applied in 31 patients, allowed us to establish definitive diagnoses in six cases (variants in ANKRD26, ITGA2B, and F8) and helped us to identify suspected variants (NBEAL2, F2, BLOC1S6, AP3D1, GP1BB, ANO6, CD36, and ITG …
However, next-generation sequencing (NGS), which was applied in 31 patients, allowed us to establish definitive diagnoses in six cases (vari …
Identification of qPCR reference genes suitable for normalising gene expression in the developing mouse embryo.
Hildyard JCW, Wells DJ, Piercy RJ. Hildyard JCW, et al. Wellcome Open Res. 2022 Sep 21;6:197. doi: 10.12688/wellcomeopenres.16972.2. eCollection 2021. Wellcome Open Res. 2022. PMID: 35509373 Free PMC article.
Results: Unexpectedly, all methods suggest that many genes within our candidate panel are acceptable references, though AP3D1, RPL13A and PAK1IP1 are the strongest performing genes overall (scoring highly in whole embryos, heads or forelimbs alone, and in all samples colle …
Results: Unexpectedly, all methods suggest that many genes within our candidate panel are acceptable references, though AP3D1, RPL13A …
Epithelioid fibrous histiocytoma: three diagnostically challenging cases with novel ALK gene fusions, unusual storiform growth pattern, and a prominent spindled morphology.
Mansour B, Donati M, Michalová K, Michal M, Ptáková N, Hájková V, Michal M. Mansour B, et al. Virchows Arch. 2022 Nov;481(5):751-757. doi: 10.1007/s00428-022-03418-0. Epub 2022 Sep 29. Virchows Arch. 2022. PMID: 36171493
All three cases were immunohistochemically ALK-positive and were analyzed for ALK gene rearrangements using a next-generation sequencing-based assay (FusionPlex Sarcoma Kit, ArcherDx). Three novel fusions, namely AP3D1::ALK, COL1A::ALK, and LRRFIP2::ALK, were detected and …
All three cases were immunohistochemically ALK-positive and were analyzed for ALK gene rearrangements using a next-generation sequencing-bas …
Triphenyltin exposure induced abnormal morphological colouration in adult male guppies (Poecilia reticulata).
Hou Y, Wang LJ, Jin YH, Guo RY, Yang L, Li EC, Zhang JL. Hou Y, et al. Ecotoxicol Environ Saf. 2022 Sep 1;242:113912. doi: 10.1016/j.ecoenv.2022.113912. Epub 2022 Jul 26. Ecotoxicol Environ Saf. 2022. PMID: 35905627 Free article.
According to the skin transcriptional profiles, the changes of dark morphological colouration might be related to the changes in genes related to the functions of melanosome components (Gpnmb, Slc45a2 and Tyr), construction (Ap3d1, Fig4, Hps3, Hps5, Lyst, Rabggta, Txndc5 a …
According to the skin transcriptional profiles, the changes of dark morphological colouration might be related to the changes in genes relat …
AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio).
Neuffer SJ, Beltran-Cardona D, Jimenez-Perez K, Clancey LF, Brown A, New L, Cooper CD. Neuffer SJ, et al. Pigment Cell Melanoma Res. 2022 Sep;35(5):495-505. doi: 10.1111/pcmr.13055. Pigment Cell Melanoma Res. 2022. PMID: 35816398 Free PMC article.
We describe crasher, a novel HPS type 10 (HPS10) zebrafish model, with a mutation in AP-3 complex subunit delta gene, ap3d1. Exon 14 of ap3d1 is overexpressed in crasher mutants, while the expression of ap3d1 as a whole is reduced. ap3d1 knockout in *A …
We describe crasher, a novel HPS type 10 (HPS10) zebrafish model, with a mutation in AP-3 complex subunit delta gene, ap3d1. Exon 14 …
Long noncoding RNA SNHG8 accelerates acute gouty arthritis development by upregulating AP3D1 in mice.
Fang L, Xu X, Lu Y, Wu Y, Li J. Fang L, et al. Bioengineered. 2021 Dec;12(2):9803-9815. doi: 10.1080/21655979.2021.1995579. Bioengineered. 2021. PMID: 34874227 Free PMC article.
The levels of SNHG8, miR-542-3p and adaptor-related protein complex 3 subunit delta 1 (AP3D1) in footpads were detected via polymerase chain reaction analysis. ...Mechanically, SNHG8 was verified to be a sponge of miR-542-3p, and miR-542-3p targeted AP3D1 3' untrans …
The levels of SNHG8, miR-542-3p and adaptor-related protein complex 3 subunit delta 1 (AP3D1) in footpads were detected via polymeras …
RNF13 Dileucine Motif Variants L311S and L312P Interfere with Endosomal Localization and AP-3 Complex Association.
Cabana VC, Bouchard AY, Sénécal AM, Ghilarducci K, Kourrich S, Cappadocia L, Lussier MP. Cabana VC, et al. Cells. 2021 Nov 6;10(11):3063. doi: 10.3390/cells10113063. Cells. 2021. PMID: 34831286 Free PMC article.
Furthermore, GST-pulldown and co-immunoprecipitation show that RNF13 variants disrupt association with AP-3 complex. Knockdown of AP-3 complex subunit AP3D1 alters the lysosomal localization of wild-type RNF13 and similarly affects the size of endosomal vesicles. ...
Furthermore, GST-pulldown and co-immunoprecipitation show that RNF13 variants disrupt association with AP-3 complex. Knockdown of AP-3 compl …
54 results