Cargando…

Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct heterogenic genetic disorders that are caused by mutations in four protein complexes: AP-3, BLOC1, BLOC2, and BLOC3. Most of the patients sho...

Descripción completa

Detalles Bibliográficos
Autores principales:	Zaman, Qaiser, Sadeeda, Anas, Muhammad, Rehman, Gauhar, Khan, Qadeem, Iftikhar, Aiman, Ahmad, Mashal, Owais, Muhammad, Ahmad, Ilyas, Muthaffar, Osama Yousef, Abdulkareem, Angham Abdulrhman, Bibi, Fehmida, Jelani, Musharraf, Naseer, Muhammad Imran
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9858993/ https://www.ncbi.nlm.nih.gov/pubmed/36672886 http://dx.doi.org/10.3390/genes14010145

Ejemplares similares

Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7)
por: Boeckelmann, Doris, et al.
Publicado: (2022)

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family
por: Ghafouri-Fard, Soudeh, et al.
Publicado: (2016)

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families
por: Abdulkareem, Angham Abdulrhman, et al.
Publicado: (2023)

Association of the Hermansky–Pudlak syndrome type 4 (HPS4) gene variants with cognitive function in patients with schizophrenia and healthy subjects
por: Kuratomi, Go, et al.
Publicado: (2013)

Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report
por: Doubková, Martina, et al.
Publicado: (2019)

Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome
por: Wang, Zhao-Xia, et al.
Publicado: (2021)

Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot–Marie–Tooth and Spastic Ataxia of Charlevoix–Saguenay Type Diseases
por: Zaman, Qaiser, et al.
Publicado: (2023)

A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family
por: Bakar, Abu, et al.
Publicado: (2023)

Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan
por: Rahat, Murad Ali, et al.
Publicado: (2023)

Hermansky–Pudlak/Chediak–Higashi syndromes
por: Solomons, Hilary Denis
Publicado: (2012)

A case of Hermansky-Pudlak with dyspnea
por: Takaldani, Ali Hossein Samadi, et al.
Publicado: (2023)

Hermansky-Pudlak Syndrome; a Case Report
por: Bagheri, Abbas, et al.
Publicado: (2010)

Hermansky-Pudlak Syndrome: A Case Report
por: Berber, Ilhami, et al.
Publicado: (2014)

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report
por: Muthaffar, Osama Y., et al.
Publicado: (2023)

Leber hereditary optic neuropathy presenting as bilateral visual loss and white matter disease
por: Algahtani, Hussein, et al.
Publicado: (2023)

Gene amplification of the Hps locus in Glycine max
por: Gijzen, Mark, et al.
Publicado: (2006)

Hermansky–Pudlak syndrome type 4 with interstitial pneumonia
por: Sakata, Yoshihiko, et al.
Publicado: (2013)

Hermansky-Pudlak Syndrome and Lung Disease: Pathogenesis and Therapeutics
por: Velázquez-Díaz, Pamela, et al.
Publicado: (2021)

Amelanotic melanoma in a patient with Hermansky-Pudlak syndrome
por: Fan, Ryan, et al.
Publicado: (2022)

Is HPS a valuable component of a STEM education? An empirical study of student interest in HPS courses within an undergraduate science curriculum
por: Lusk, Greg
Publicado: (2022)

The Role of the Endothelium in HPS Pathogenesis and Potential Therapeutic Approaches
por: Gavrilovskaya, Irina, et al.
Publicado: (2012)

Connection between HPS and ACLF: a solution of chaos?
por: Maruyama, Hitoshi, et al.
Publicado: (2021)

Methodological Diversity in HPS-Informed Science Education Research
por: Erduran, Sibel
Publicado: (2021)

Association of the Hermansky-Pudlak syndrome type-3 protein with clathrin
por: Helip-Wooley, Amanda, et al.
Publicado: (2005)

Unexpected intra-operative bleeding due to Hermansky–Pudlak Syndrome
por: Ozgur, Mustafa, et al.
Publicado: (2015)

Matrix metalloproteinase activity in the lung is increased in Hermansky-Pudlak syndrome
por: Summer, Ross, et al.
Publicado: (2019)

Retinal biomarkers and pharmacological targets for Hermansky-Pudlak syndrome 7
por: Romano, Giovanni Luca, et al.
Publicado: (2020)

A Rare Case of Hermansky-Pudlak Syndrome Type 3
por: Alcid, Joel, et al.
Publicado: (2018)

Frequency of Hepatopulmonary Syndrome (HPS) Among Patients With Liver Cirrhosis: A Letter to Editor
por: Mokhtarifar, Ali, et al.
Publicado: (2016)

Characterizing renal involvement in Hermansky-Pudlak Syndrome in a zebrafish model
por: Schenk, H., et al.
Publicado: (2019)

Hermansky-Pudlak Syndrome: A Rare Cause of Post-polypectomy Bleeding
por: Baiomi, Ahmed, et al.
Publicado: (2021)

Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome
por: Abudi-Sinreich, Shachar, et al.
Publicado: (2022)

Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome
por: Chen, Chonglin, et al.
Publicado: (2022)

Dermatologic manifestations in patients with the Hermansky–Pudlak syndrome types 1 and 3
por: Santos Malave, Gabriel, et al.
Publicado: (2022)

Whole-Exome Sequencing Identifies Novel SCN1A and CACNB4 Genes Mutations in the Cohort of Saudi Patients With Epilepsy
por: Naseer, Muhammad Imran, et al.
Publicado: (2022)

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability
por: Naseer, Muhammad Imran, et al.
Publicado: (2020)

Topics in Accelerator Health Physics: HPS Professional Development School Proceedings
por: Mackenzie, Marc
Publicado: (2009)

Acute exacerbation of combined pulmonary fibrosis and emphysema associated with Hermansky–Pudlak syndrome
por: Sugino, Keishi, et al.
Publicado: (2015)

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
por: Stephen, Joshi, et al.
Publicado: (2017)

Hermansky-Pudlak syndrome-2 alters mitochondrial homeostasis in the alveolar epithelium of the lung
por: Cuevas-Mora, Karina, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_ntl0vvcevs8ng98482b0qcg1vf