Marie-Jeanne Baas's research while affiliated with University of Strasbourg and other places

Publications (22)

Article
Interaction between von Willebrand factor (VWF) and platelet GPIbα is required for primary haemostasis. Lack or loss-of-function in the ligand-receptor pair results in bleeding complications. Paradoxically, gain-of-function mutations in VWF or GPIbα also results in bleeding complications as observed in type 2B von Willebrand disease (VWD) and plate...
Poster
Introduction : Le syndrome de Bernard et Soulier (BSS) est une pathologie hémorragique constitutionnelle due à des anomalies du complexe glycoprotéique plaquettaire Ib-IX-V (GPIb-IX-V), le récepteur plaquettaire du facteur Willebrand (VWF) et de la thrombine. Le diagnostic est évoqué devant une absence d’agglutination des plaquettes en présence de...
Article
5313 Introduction VWD 2B and PT-VWD are rare diseases, due to mutations inducing a gain of function respectively of von Willebrand factor (VWF) and of its platelet receptor, Glycoprotein (GP)1bα Case history We report here the case of a young girl, born with an extensive purpura and a severe thrombocytopenia: platelet count: 16G/L. There was no a...
Article
  The molecular defect of a new Bernard–Soulier patient, originating from Morocco and presenting thrombocytopenia with large platelets and an absence of ristocetin-induced platelet agglutination, has been identified and reproduced in transfected heterologous cells. Gene sequencing revealed insertion of a guanine in the domain coding for the transme...
Article
Glycoprotein (GP) V is noncovalently linked to GPIbalpha, GPIbbeta and GPIX within the platelet GPIb-V-IX complex, a receptor for von Willebrand factor and thrombin. Two functions have been ascribed to GPV, namely, the modulation of thrombin- and collagen-dependent platelet responses. The biosynthesis of this molecule was investigated in pulse-chas...
Article
Full-text available
Glycoprotein (GP) Ib/V/IX complex-dependent platelet adhesion to von Willebrand factor (VWF) is supported by the 45-kd N-terminal extracellular domain of the GPIb alpha subunit. Recent results with an adhesion blocking antibody (RAM.1) against GPIb beta, which is disulfide linked to GPIb alpha, have suggested a novel function of this subunit in reg...
Article
Full-text available
This paper describes the molecular defect of the second case of Bernard-Soulier syndrome, initially reported in 1957. Analysis of the patient's platelets by flow cytometry and Western blotting failed to detect surface expression of any of the four subunits of the glycoprotein (GP)Ib-V-IX complex and revealed small amounts of intracellular GPIbalpha...
Article
GPIbbeta is disulfide-linked to GPIbalpha to form GPIb, a platelet receptor for von Willebrand factor (vWF). GPIb is in turn non covalently linked to GPIX and GPV to form the GPIb/V/IX complex. Apart from its contribution to controlling surface expression of the complex, the exact function of GPIbbeta is not well established due to a lack of suitab...
Article
Full-text available
The multisubunit leucine-rich glycoprotein (GP) Ib-IX-V complex mediates von Willebrand factor-dependent platelet adhesion at sites of blood-vessel injury. Molecular defects of this receptor are reported to cause the Bernard-Soulier haemorrhagic disorder. To gain insight into the mechanisms controlling expression of normal and defective receptors,...
Article
The multisubunit leucine-rich glycoprotein (GP) Ib–IX–V complex mediates von Willebrand factor-dependent platelet adhesion at sites of blood-vessel injury. Molecular defects of this receptor are reported to cause the Bernard–Soulier haemorrhagic disorder. To gain insight into the mechanisms controlling expression of normal and defective receptors,...
Article
The mechanisms governing the biosynthesis and surface expression of platelet adhesive receptors on parent megakaryocytes are as yet poorly understood. In particular, the assembly and processing of the multisubunit glycoprotein (GP) Ib-IX-V complex, a receptor for von Willebrand factor (vWf) is not fully understood. In the present work, these questi...
Article
Leucine‐rich repeats are conserved structural motifs present in the four components of the human platelet glycoprotein Ib/IX/V complex receptor for the adhesive protein von Willebrand factor. The absence or abnormality of this complex is responsible for Bernard‐Soulier disease, an autosomal recessive bleeding disorder. We report a deletion of leuci...
Article
We evaluated the validity of DNA enzymatic amplification (PCR) in a population at risk for HIV-1 infection, consisting of hemophiliacs and children born to seropositive mothers. All but one of the seropositive hemophiliacs and controls were found positive with the three sets of primers. All the seronegative patients and controls were found negative...
Article
In order to examine the possibilities of carrier detection and prenatal diagnosis in hemophilia A and B in the Chinese region of Suzhou, we analyzed four different RFLPs within the factor IX gene and two intragenic RFLPs and one extragenic RFLP for the factor VIII gene. The results obtained show important differences between the Chinese and Caucasi...
Article
Sixty-five individuals belonging to 16 argentinian families of hemophilia A were studied using the St 14 probe (DXS52 locus). This probe is widely used for carrier detection and prenatal diagnosis, despite the risk of recombination between the factor VIII gene and the DXS52 locus, because of its high informativity. The families are divided in two g...
Article
Hemophilia A and B are hereditary X-linked recessive bleeding disorders due to an anomaly or absence of the gene coding for coagulation factors VIII or IX. Until recently, carrier detection was performed on standard pedigree analysis and clotting factor assays. Due to lyonisation, the results obtained by these methods were only probabilistic. Recom...
Conference Paper
About 250 individuals belonging to 44 families with hemophilia A or B were studied in our laboratory. The detection of carriers was first established by pedigree analysis of each family . and coagulation and immunological assays of factor VIII or IX. The availability of specific probes for the molecular study of these two genes makes possible a dia...

Citations

... This less severe reduction of the vWF receptor, while inducing the typical macrothrombocytopenia of BSS, resulted in a milder bleeding phenotype. In fact, our patients presented a mild or even absent bleeding tendency and low ISTH BAT bleeding scores, differently from the most common phenotype of BSS patients that is characterized by moderate-to-severe bleeding manifestations and high ISTH BAT scores [5,14,15,17]. Due to the absence of significant bleeding symptoms, thrombocytopenia came to medical attention only in adulthood, thus favoring a misdiagnosis of ITP, as reported in patients II-1 and II-3. The results of the RIPA assay are also in keeping with a mild form of BSS; in fact, our patients showed impaired response to ristocetin 1.5 mg/mL, but normal RIPA using the concentration of 3.0 mg/mL. ...
... Mutations in GPIBA responsible for the autosomal dominant VWDP (MIM #177820) complete the list of alterations affecting the GPIb-IX-V complex Hamilton et al., 2011;Dreyfus et al., 2011;Enayat et al., 2012]. Of the six mutations identified so far, one is a rare in frame deletion of residues 462-470 (p.Pro462 Ser470) [Othman et al., 2005]. ...
... De plus, cette technique permet la quantification des organites plaquettaires (granule α, granule δ et les corps multi vésiculaire) ainsi qu'une appréciation de leur contenu. La microscopie à fluorescence peut également être utilisée pour déterminer la taille des plaquettes, la présence de l'anneau de microtubules ainsi que déterminer le contenu granulaire (Aguilar, Weber et al. 2019, Proulle, Strassel et al. 2019. ...
... 27 The N-terminal domain of GPIbα that binds the A1 domain is a leucine rich repeat (LRR) domain consisting of nine parallel β strands capped by a helix containing a disulfide bond knot involving four cystines and a protruding sequence referred to as the β-switch where PT-VWD mutations reside. Several mutations causing PT-VWD have been discovered in the β-switch: W230L, 28 G233S, 29 D235Y, 30 M239I, 31 and G233V 32 and M239V, 33,34 which are the most common functionally studied variants. [35][36][37][38] In contrast to the structural similarities of A1, structures of GPIbα show that the β-switch exists as a compact partially disordered coil except when in a complex crystal structure with A1 where the β-switch exists as a β-hairpin structure of two antiparallel β strands that continue the hydrogen bond network of the central β-sheet of the A1 domain. ...
... The subunits associate in the endoplasmic reticulum and mature in the Golgi apparatus before translocation to the plasma membrane. Expression of the complex on the cell surface depends on the concurrent expression and correct assembly of all three subunits [6][7][8]. ...
... The third group has twenty-five genes that encode pro- teins containing "Typical" LRRs ( Figure 2C). They are Nogo-receptor (NgR) [48][49][50][51][52][53], LGI1 , GPIbα [78][79][80][81][82][83][84][85][86][87][88][89][90][91][92][93][94][95][96], GPIbβ [95,[97][98][99][100][101], GPIX [95,[102][103][104][105][106][107][108], Trk-A [109][110][111][112][113][114], Trk-B [114], Trk-C [114], polycystin 1 [115][116][117][118][119][120], FSHR [121][122][123][124][125][126][127], LHCGR [128][129][130][131][132][133][134][135][136][137][138][139], TSHR [140][141][142][143][144][145][146][147][148][149][150][151][152], Nyctalopin [153][154][155][156][157][158][159][160][161][162][163][164], LRIT3 [165][166][167], RXFP2 [168,169], insulin-like growth factor-binding protein complex acid labile subunit (ALS) [13,[170][171][172][173][174][175][176][177], ISLR [28], Slitrk1 [178,179], Slitrk2 [178,180] , Slitrk4 [28,178] [183][184][185][186][187][188], TLR5 [189], and TLR6 [190]. The ecto- domains in Slitrks consist of two repeats of a super motif of LRRNT (LRR) 8 LRRCT ( Figure 2C). ...
... Consistent with these observations, the extra cellular domain of GPIbα, but not the combined extra cellular and TM domains, can be replaced with their counterparts from the α-subunit of interleukin-4 receptor without affecting GPIb-IX expression in transgenic mice [11]. In addition, a frame-shift mutation in the GPIbβ gene that produced new TM and cytoplasmic domains was identified in a patient with BSS [46], as was a nonsense mutation in the GPIX gene that eliminated its TM and cytoplasmic domains in another patient with BSS [47]. Besides decreasing expression of the GPIb-IX complex, formation of native juxtamembrane disulfide bonds between GPIbα and GPIbβ is also perturbed or disrupted when the TM domains of GPIb-IX are replaced [44,45]. ...
... Para el análisis de polimorfismos en el gen de HA, se realizó PCR para amplificar un fragmento de 142 pb localizado en el intron 18 del gen del FVIII, el cual contiene un polimorfismo de restricción para la enzima BclI con alelos de 142 y 99 + 43 pb (6,17,21,22). Para la amplificación se utilizaron Para el análisis de polimorfismos en el gen de HB, se amplificaron fragmentos de 325 y 375 pb del polimorfismo HinfI (26,27). Se utilizaron los iniciadores: I1A 5´-GTC-CAT-CAT-TGA-CCA-AA-3´. ...
... The follow-up of the defective gene in order to establish or exclude carrier status and to perform prenatal diagnosis was systematically applied since 1986 [7,8] . Two hundred fourtheen unrelated pedigrees of Greek and Cypriot origin and 1058 DNA samples isolated from the peripheral blood of 338 patients, 570 relatives and 81 reference subjects and from 69 chorionic villus samples were studied [9] . ...
... Indeed, a novel SNP C.8899G > A was found at the 3¢UTR region of exon 26 in two Korean patients with AHA (Hwang et al, 2011). While this has not been reported by other groups in the case of AHA as yet, a similar correlation between a SNP in the 3¢UTR of F9 and levels of circulating factor IX in haemophilia B has been proposed (de la Salle et al, 1993). More recently, several polymorphisms have been reported in the coding sequence of F8, which are differently distributed between patients of different ethnic origins. ...