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S Certain

Explore the profile of S Certain including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 8
Citations 1415
Followers 0
Related Specialties
Genetics
Science
Allergy & Immunology
Top 10 Co-Authors
G de Saint Basile
A Fischer
E Pastural
F Le Deist
N Jabado
R Seger
J P DiSanto
F J Barrat
E Yvon
A Dautry-Varsat
Published In
Eur J Immunol
Science
Nat Genet
Blood
Genomics
Affiliations
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Recent Articles
1.
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
Menasche G, Pastural E, Feldmann J, Certain S, Ersoy F, Dupuis S, et al.
Nat Genet . 2000 Jun; 25(2):173-6. PMID: 10835631
Griscelli syndrome (GS, MIM 214450), a rare, autosomal recessive disorder, results in pigmentary dilution of the skin and the hair, the presence of large clumps of pigment in hair shafts...
2.
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease
Cavazzana-Calvo M, de Saint Basile G, Gross F, Yvon E, Nusbaum P, Selz F, et al.
Science . 2000 Apr; 288(5466):669-72. PMID: 10784449
Severe combined immunodeficiency-X1 (SCID-X1) is an X-linked inherited disorder characterized by an early block in T and natural killer (NK) lymphocyte differentiation. This block is caused by mutations of the...
3.
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome
Certain S, Barrat F, Pastural E, Le Deist F, Jabado N, Benkerrou M, et al.
Blood . 2000 Jan; 95(3):979-83. PMID: 10648412
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die...
4.
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
Stepp S, Le Deist F, Bhawan S, Certain S, Mathew P, Henter J, et al.
Science . 1999 Dec; 286(5446):1957-9. PMID: 10583959
Familial hemophagocytic lymphohistiocytosis (FHL) is a rare, rapidly fatal, autosomal recessive immune disorder characterized by uncontrolled activation of T cells and macrophages and overproduction of inflammatory cytokines. Linkage analyses indicate...
5.
Localization of the Rab escort protein-2 (REP2) and inositol 1,4,5-trisphosphate 3-kinase (ITPKB) genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44
Barrat F, Depetris D, Certain S, Mattei M, de Saint Basile G
Genomics . 1997 Jul; 43(1):111-3. PMID: 9226383
No abstract available.
6.
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene
Pastural E, Barrat F, Certain S, Sanal O, Jabado N, Seger R, et al.
Nat Genet . 1997 Jul; 16(3):289-92. PMID: 9207796
Griscelli disease (OMIM 214450) is a rare autosomal recessive disorder characterized by pigmentary dilution, variable cellular immunodeficiency and onset of acute phases of uncontrolled lymphocyte and macrophage activation, leading to...
7.
The murine interleukin-2 receptor gamma chain gene: organization, chromosomal localization and expression in the adult thymus
DiSanto J, Certain S, Wilson A, MacDonald H, Avner P, Fischer A, et al.
Eur J Immunol . 1994 Dec; 24(12):3014-8. PMID: 7805729
Defects in the interleukin-2 receptor gamma (IL-2R gamma) chain in the man result in an X-linked severe combined immunodeficiency, SCIDX1, characterized by an absence of T-cell differentiation. This phenotype may...
8.
Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding
DiSanto J, Dautry-Varsat A, Certain S, Fischer A, de Saint Basile G
Eur J Immunol . 1994 Feb; 24(2):475-9. PMID: 8299698
Interactions of interleukin-2 (IL-2) with its high-affinity, heterotrimeric receptor (IL-2R alpha beta gamma) play a pivotal role in the autocrine pathway of T lymphocyte expansion required in an immune response....