Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2

Syndrome Type ◽

Missense Mutations ◽

Identification and functional characterization of the human ether-a-go-go-related gene Q738X mutant associated with hereditary long QT syndrome type 2

International Journal of Molecular Medicine ◽

10.3892/ijmm.2014.1827 ◽

2014 ◽

Vol 34 (3) ◽

pp. 810-815 ◽

Cited By ~ 1

Author(s):

SHENG-NA HAN ◽

SONG-HUA YANG ◽

YU ZHANG ◽

XIAO-YAN SUN ◽

YAN-YAN DUAN ◽

...

Keyword(s):

Long Qt Syndrome ◽

Syndrome Type ◽

Related Gene ◽

Long Qt ◽

Qt Syndrome

Hematopoietic stem cell transplantation with a reduced-intensity conditioning regimen in pediatric patients with Griscelli syndrome type 2

Pediatric Transplantation ◽

10.1111/petr.12092 ◽

2013 ◽

Vol 17 (5) ◽

pp. 487-491 ◽

Cited By ~ 9

Author(s):

Amir Ali Hamidieh ◽

Zahra Pourpak ◽

Kolsoum Yari ◽

Mohammad Reza Fazlollahi ◽

Susan Hashemi ◽

...

Keyword(s):

Stem Cell ◽

Pediatric Patients ◽

Conditioning Regimen ◽

Syndrome Type ◽

Reduced Intensity Conditioning ◽

Hematopoietic Stem ◽

Griscelli Syndrome ◽

Reduced Intensity Conditioning Regimen ◽

Reduced Intensity

A hemophagocytic syndrome revealing a Griscelli syndrome type 2

Annales de biologie clinique ◽

10.1684/abc.2013.0860 ◽

2013 ◽

Vol 71 (4) ◽

pp. 461-464

Author(s):

Selim Jennane ◽

Maria El Kababri ◽

Laila Hessissen ◽

Amina Kili ◽

Mohamed Nacer Nachef ◽

...

Keyword(s):

Hemophagocytic Syndrome ◽

Syndrome Type ◽

Analysis of RAB27A Gene in Griscelli Syndrome type 2: Novel Mutations Including a Deletion Hotspot

Journal of Clinical Immunology ◽

10.1007/s10875-008-9192-5 ◽

2008 ◽

Vol 28 (4) ◽

pp. 384-389 ◽

Cited By ~ 18

Author(s):

Setareh Mamishi ◽

Mohammad Hossein Modarressi ◽

Babak Pourakbari ◽

Banafshe Tamizifar ◽

Fatemeh Mahjoub ◽

...

Keyword(s):

Syndrome Type ◽

Novel Mutations ◽

Functional characterization of Kunitz domains in hepatocyte growth factor activator inhibitor type 2

FEBS Letters ◽

10.1016/s0014-5793(98)01105-3 ◽

1998 ◽

Vol 436 (1) ◽

pp. 111-114 ◽

Cited By ~ 32

Author(s):

Li Qin ◽

Kimitoshi Denda ◽

Takeshi Shimomura ◽

Toshiya Kawaguchi ◽

Naomi Kitamura

Keyword(s):

Growth Factor ◽

Hepatocyte Growth Factor ◽

Hepatocyte Growth Factor Activator ◽

Inhibitor Type ◽

Activator Inhibitor Type ◽

Hepatocyte Growth ◽

Activator Inhibitor

Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism

Pediatric Blood & Cancer ◽

10.1002/pbc.28312 ◽

2020 ◽

Vol 67 (8) ◽

Cited By ~ 1

Author(s):

Kristine E. Woodward ◽

Ravi M. Shah ◽

Susanne Benseler ◽

Xing‐Chang Wei ◽

Denise Ng ◽

...

Keyword(s):

Genetic Evaluation ◽

Neurological Symptoms ◽

Syndrome Type ◽

Hair pigment distribution changes after haematopoietic stem cell transplantation in Griscelli syndrome type 2

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/jdv.16795 ◽

2020 ◽

Author(s):

M.A. Yamazaki‐Nakashimada ◽

R. Roldán‐Marín ◽

S. Toussaint‐Caire ◽

A. Olaya‐Vargas ◽

N. Ramírez‐Uribe ◽

...

Keyword(s):

Stem Cell ◽

Stem Cell Transplantation ◽

Cell Transplantation ◽

Haematopoietic Stem Cell Transplantation ◽

Haematopoietic Stem Cell ◽

Syndrome Type ◽

Griscelli Syndrome ◽

Pigment Distribution

Functional characterization of two novel splicing mutations of glucokinase gene associated with maturity-onset diabetes of the young type 2 (MODY2)

Molecular Biology ◽

10.1134/s0026893314020071 ◽

2014 ◽

Vol 48 (2) ◽

pp. 248-253 ◽

Cited By ~ 2

Author(s):

E. L. Igudin ◽

P. V. Spirin ◽

V. S. Prasolov ◽

N. A. Zubkova ◽

E. E. Petryaikina ◽

...

Keyword(s):

Maturity Onset Diabetes ◽

Glucokinase Gene ◽

Splicing Mutations ◽

Onset Diabetes

Novel RAB27A Mutation Distinguishes Hypopigmentation From Cytotoxic Dysfunction in Griscelli Syndrome Type 2

Journal of Allergy and Clinical Immunology ◽

10.1016/j.jaci.2012.12.923 ◽

2013 ◽

Vol 131 (2) ◽

pp. AB73

Author(s):

Sanny K. Chan ◽

Pinaki Banerjee ◽

Lenora Mendoza Noroski ◽

Linda Monaco-Shawver ◽

Javier Chinen ◽

...

Keyword(s):

Syndrome Type ◽

Late-onset hemophagocytic lymphohistiocytosis (HLH) in an adult female with Griscelli syndrome type 2 (GS2)

Annals of Hematology ◽

10.1007/s00277-014-2284-9 ◽

2014 ◽

Vol 94 (6) ◽

pp. 1057-1060 ◽

Cited By ~ 3

Author(s):

Martin Henkes ◽

Jürgen Finke ◽

Klaus Warnatz ◽

Sandra Ammann ◽

Udo Zur Stadt ◽

...

Keyword(s):

Adult Female ◽

Hemophagocytic Lymphohistiocytosis ◽

Late Onset ◽

Syndrome Type ◽