Cargando…

Identification of a Novel MLPH Missense Mutation in a Chinese Griscelli Syndrome 3 Patient

Melanophilin (MLPH) functions as a linker between RAB27A and myosin Va (MYO5A) in regulating skin pigmentation during the melanosome transport process. The MYO5A-MLPH-RAB27A ternary protein complex is required for anchoring mature melanosomes in the peripheral actin filaments of melanocytes for subs...

Descripción completa

Detalles Bibliográficos
Autores principales:	Huang, Qiaorong, Yuan, Yefeng, Gong, Juanjuan, Zhang, Tianjiao, Qi, Zhan, Yang, Xiumin, Li, Wei, Wei, Aihua
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Medicine
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120966/ https://www.ncbi.nlm.nih.gov/pubmed/35602484 http://dx.doi.org/10.3389/fmed.2022.896943

Ejemplares similares

Identification of MicroRNA Targeting Mlph and Affecting Melanosome Transport
por: Lee, Jeong Ah, et al.
Publicado: (2019)

Griscelli syndrome type-3
por: Shah, Bela J., et al.
Publicado: (2016)

Griscelli Syndrome: A Case Report
por: MANSOURI NEJAD, Seyed Ebrahim, et al.
Publicado: (2014)

Griscelli Syndrome Type 3 in Siblings
por: Gupta, Isha, et al.
Publicado: (2022)

MLPH Accelerates the Epithelial–Mesenchymal Transition in Prostate Cancer
por: Zhang, Tianbiao, et al.
Publicado: (2020)

Griscelli Syndrome: Hemophagocytic Lymphohistiocytosis with Silvery Hair
por: Mahalingashetti, Prashant B, et al.
Publicado: (2012)

End-stage Renal Disease in Griscelli Syndrome
por: Mahajan, Vidushi, et al.
Publicado: (2022)

Association analysis of melanophilin (MLPH) gene expression and polymorphism with plumage color in quail
por: Yuan, Zhiwen, et al.
Publicado: (2023)

Regulation of Melanophilin (Mlph) gene expression by the glucocorticoid receptor (GR)
por: Myung, Cheol Hwan, et al.
Publicado: (2021)

A Stop-Gain Mutation within MLPH Is Responsible for the Lilac Dilution Observed in Jacob Sheep
por: Posbergh, Christian J., et al.
Publicado: (2020)

Griscelli Syndrome Presented with Status Epilepticus and Hemophagocytic Lymphohistiocytosis
por: Demircioğlu, Fatih, et al.
Publicado: (2017)

Griscelli Syndrome in a seven years old girl
por: Moradveisi, Borhan, et al.
Publicado: (2021)

Griscelli Syndrome in Skin of Color: A Trichoscopic Perspective
por: Shah, Swapnil D., et al.
Publicado: (2023)

A Third MLPH Variant Causing Coat Color Dilution in Dogs
por: Van Buren, Samantha L., et al.
Publicado: (2020)

Griscelli Syndrome With Hemophagocytic Lymphohistiocytosis: A Rare Case Report
por: Perugu, Ratna Krishna Tanmayi, et al.
Publicado: (2023)

Polymorphisms within the canine MLPH gene are associated with dilute coat color in dogs
por: Philipp, Ute, et al.
Publicado: (2005)

Two-Exon Skipping within MLPH Is Associated with Coat Color Dilution in Rabbits
por: Lehner, Stefanie, et al.
Publicado: (2013)

New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits
por: Demars, Julie, et al.
Publicado: (2018)

Neuroimaging Findings in Griscelli syndrome: A case report and review of the literature
por: Alsugair, Faisal, et al.
Publicado: (2020)

Hair Shaft Examination: A Practical Tool to Diagnose Griscelli Syndrome
por: Montero-Vilchez, Trinidad, et al.
Publicado: (2021)

Refractory Seizure in a Patient With Griscelli Syndrome: A Unique Case With One Mutation and a Novel Deletion
por: Ortiz, Juan Fernando, et al.
Publicado: (2021)

An Indian Boy with Griscelli Syndrome Type 2: Case Report and Review of Literature
por: Singh, Ankur, et al.
Publicado: (2014)

SAT-078 Griscelli Syndrome and Late Endocrine Effects After Stem Cell Transplant
por: Mencher, Shana, et al.
Publicado: (2020)

The First Korean Case of Griscelli Syndrome Type 2 With Hemophagocytic Lymphohistiocytosis and Partial Albinism
por: Lee, Youngeun, et al.
Publicado: (2022)

Macrophage activation syndrome associated with griscelli syndrome type 2: case report and review of literature
por: Sefsafi, Zakia, et al.
Publicado: (2018)

Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2
por: Wang, Jing, et al.
Publicado: (2022)

Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding
por: Cetica, Valentina, et al.
Publicado: (2015)

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing
por: Yu, Shanshan, et al.
Publicado: (2014)

Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions
por: Xiong, Jing, et al.
Publicado: (2019)

Silvery Hair Syndrome in Two Cousins: Chediak-Higashi Syndrome vs Griscelli Syndrome, with Rare Associations
por: Reddy, R Raghunatha, et al.
Publicado: (2011)

The lavender plumage colour in Japanese quail is associated with a complex mutation in the region of MLPH that is related to differences in growth, feed consumption and body temperature
por: Bed’hom, Bertrand, et al.
Publicado: (2012)

Case Report: A Missense Mutation of KIT in Hyperpigmentation and Lentigines Unassociated With Systemic Disorders: Report of a Chinese Pedigree and a Literature Review
por: Yang, Lu, et al.
Publicado: (2022)

Griscelli Syndrome Type 3 with Coexistent Universal Dyschromia—An Uncommon Association of a Rare Entity
por: Mathachan, Sinu Rose, et al.
Publicado: (2020)

Development, characterization, and hematopoietic differentiation of Griscelli syndrome type 2 induced pluripotent stem cells
por: Güney-Esken, Gülen, et al.
Publicado: (2021)

Late Endocrine Effects after Stem Cell Transplant in a Young Girl with Griscelli Syndrome
por: Mencher, Shana R., et al.
Publicado: (2021)

Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto’s thyroiditis
por: Gong, Licheng, et al.
Publicado: (2018)

Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease
por: Wu, Yuan, et al.
Publicado: (2018)

Broadening the Mutation Spectrum in GJA8 and CHMP4B: Novel Missense Variants and the Associated Phenotypes in Six Chinese Han Congenital Cataracts Families
por: Wang, Xun, et al.
Publicado: (2021)

Overexpression of MLPH in Rectal Cancer Patients Correlates with a Poorer Response to Preoperative Chemoradiotherapy and Reduced Patient Survival
por: Li, Wan-Shan, et al.
Publicado: (2021)

Generalized Comedones, Acne, and Hidradenitis Suppurativa in a Patient with an FGFR2 Missense Mutation
por: Higgins, Rebecca, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_apip8gvkua20o2ic60lfmkohoh