bluuebunny/crossref_metadata_2025_split huggingface dataset:
Osteosclerotic bone dysplasia in siblings with a Fam20C mutation
Authors: Fradin M , Stoetzel C , Muller J , Koob M , Christmann D , Debry C , Kohler M , Isnard M , Astruc D , Desprez P , Zorres C , Flori E , Dollfus H , Doray B 
Published: July 2010

Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene. FAM20C codes for the human homolog of DMP4, a dentin matrix protein highly expressed in odontoblasts and moderately in bone. DMP4 is probably playing a role in the mineralization process. Since the first case reported in 1989 by Raine et al. 21 cases have been published delineating a phenotype which associates dysmorphic features, cerebral calcifications, choanal atresia or stenosis and thoracic/pulmonary hypoplasia. Kan and Kozlowski suggested the name of Raine syndrome to describe this new lethal osteosclerotic bone dysplasia. All the cases described were lethal during the neonatal period except for the last two reported patients aged 8 and 11 years who presented severe mental retardation. Here we describe two sisters, with an attenuated phenotype of Raine syndrome, who present an unexpectedly normal psychomotor development at ages 4 and 1, respectively. Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. This case report also prompted us to revisit the FAM20 gene classification and allowed us to highlight the ancestral status of Fam20C.
HL‐A Types in Danish Eskimos from Greenland
Authors: KISSMEYER‐NIELSEN F. , ANDERSEN H. , HAUGE M. , KJERBYE KAREN E. , MOGENSEN B. , SVEJGAARD A. 
Published: July 2010

HL‐A typing of 110 Danish Eskimos has shown a marked difference in the frequencies of some HL‐A antigens as compared to Danish Caucasians.The most striking finding was a high frequency of HL‐A9, Ba*(W28), HL‐A5, BB (W10), and FJH(W27). There was a low frequency of HL‐A1, Li(<W19), HL‐A7, HL‐A8, and HL‐A12. This must result in a rather high chance for occurrence of the same HL‐A haplotypes in Eskimo matings, and the importance of this in relation to the high frequency of trophoblastic lesions among Eskimos is discussed.
The Distribution of HL—A Leukocyte Antigens in Singapore Chinese, Malays, and Indians
Authors: TING A. , WEE G. B. , SIMONS M. J. , MORRIS P. J. 
Published: July 2010

The distribution of 19 HL—A antigens was studied in three ethnic groups in Singapore: Chinese, Malays, and Indians. Two antigens (one from each HL—A locus) were found to be significantly more frequent in each ethnic group when compared to the other two ethnic groups. These antigens were HL—A11 and W10 in Chinese, HL—A9 and W15 in Malays, and HL—A1 and W17 in Indians. The antigens HL—A10, HL—A8, and W14 had a low frequency in the three ethnic groups. The virtual absence of HL—A1 in Chinese, low frequency in Malays, and high frequency in Indians support the suggestion that this antigen is a “Caucasian” antigen.The presence of linkage disequilibrium between the two HL—A loci was investigated by the calculation of delta values. No significant delta values were found in the Malays whereas the Chinese and Indians showed significant values for the antigen combinations HL—A2.12, HL—A9.5, HL—A9.W17, HL—A11.W15 (Chinese) and HL—A1.W17, HL—A2.W17, HL—A3.W5 (Indians).It is suggested that the HL—A system of leukocyte antigens should be an important genetic marker in the study of origins and relationships between ethnic groups.
The Mo91 Antigen, an Allele at the First HL‐A Locus
Authors: SEIGNALET JEAN 
Published: July 2010

Mo91 is an antigen “intermediate” between HL‐A10 and HL‐A11 which is defined by the coexisting positivities of several apparently monospecific anti‐HL‐A10 and anti‐HL‐A11 sera. Mo91 cells completely absorb the antibodies contained in these anti‐HL‐A10 and anti‐HL‐A11 sera. Family investigations show that Mo91 is controlled by an allele at the first HL‐A locus.There are probably other intermediate antigens in the HL‐A system. Their constitution is discussed. Are they distinct from two classic antigens, and linked by a strong cross reaction with these two antigens? Are they double antigens governed by single genes, that may be called “bispecific alleles”
A New HL‐A Antigen at the LA Locus Positively Associated with the W14 (MaKi) Specificity of the FOUR Locus
Authors: Ferrara G. B. , Tosi R. M. , Azzolina G. , Carminati G. 
Published: July 2010

The W14 (MaKi) specificity of the FOUR locus is positively associated with a previously unrecognized specificity of the LA locus, which is now provisionally called Fe 55.Because of the similar and low frequency of the two antigens, the recognition of Fe 55 as a separate entity is very difficult.It is possible that the same phenomenon is delaying the recognition of other “blanks'’ as well.
β ‐ 2 ‐ Microglobulin. Part of the HL‐A Molecule in the Cell Membrane
Authors: Solheim B. G. , Thorsby E. 
Published: July 2010

Human lymphocytes were reacted with antisera against β‐2‐microglobulin (β‐2‐m) or HL‐A antigens, and with xenogeneic anti‐lymphocyte sera under conditions where redistribution and aggregation of the corresponding cell‐membrane components were induced. The results demonstrate that:

Treatment with anti‐β‐2‐m antisera aggregated and completely removed the HL‐A anti‐genic structures from the cell membrane, but not, however, the structures reactive with anti‐lymphocyte sera.
Treatment with anti‐HL‐A antisera also aggregated some of the β‐2‐m carrying structures, but left others undisturbed.
Treatment with anti‐lymphocyte sera did not disturb expression of HL‐A antigens or β‐2‐m structures.
Anti‐β‐2‐m and anti‐HL‐A antisera inhibited antigen activation of lymphocytes, but this was not so in the case of the anti‐lymphocyte sera used.
The anti‐β‐2‐m antiserum and the anti‐lymphocyte sera were mitogenic for normal lymphocytes.

Taken together, our results strongly suggest that β‐2‐m is also part of native cell‐membrane bound HL‐A antigens, and that the antigenic structures which react with xenogeneic anti‐lymphocyte sera may reside on molecules separate from those carrying HL‐A and β‐2‐m activity. Furthermore, the results indicate that the two sub‐unit molecules consisting of HL‐A alloantigenic determinants and β‐2‐m are closely associated — structurally or functionally — with lymphocyte receptor structures.
β2‐Microglobulin on the Cell Surface. Relationship to HL‐A Antigens and the Mixed Leucocyte Culture Reaction
Authors: Lindblom J. BERTIL , ÖStberg LARS , Peterson PER A. 
Published: July 2010

Fab'‐fragments derived from antibodies against β2‐microglobulin will completely abolish the cytotoxic effect of antibodies against HL‐A serological determinants. This is the result of the Fab'‐fragments competing with the antibodies against the HL‐A antigens for binding to the lymphocyte surface. Reciprocally, it is shown that Fab'‐fragments against the HL‐A alloantigenic structures impeded the binding of Fab'‐fragments to cell surface bound β2‐microglobulin.Fab'‐fragments against β2‐microglobulin inhibit considerably the mixed leucocyte culture reaction (MLR). The main effect is on the responding cells, whereas when the stimulating cells are treated with Fab'‐fragments against β2‐microglobulin they do not (or, at most, only slightly) change their characteristics in the MLR. Fab'‐fragments against immunoglobulin light chains do not influence the MLR significantly, whereas Fab'‐fragments against HL‐A antigens depress the response.Fab'‐fragments against β2‐microglobulin do not interfere with the mitogenic stimulation of PHA, whereas Fab'‐fragments from the antiserum used in this study against HL‐A8 reduced the mitogenic effect of PHA considerably.
Distribution of HL‐A Antigens on Blood Cells
Authors: Cook KERRIN M. 
Published: July 2010

The presence of HL—A antigens on various blood cells was determined by absorption techniques with the absorbed antisera being tested in the lymphocyte cytotoxicity test for loss of antibody activity.To overcome the risk of contamination by lymphocytes, methods for the preparation of pure cell suspensions of platelets, granulocytes and erythrocytes were evolved, giving high yields of cells.The following antigens were detected on platelets and granulocytes, but not on erythrocytes either fresh or papainized: HL—A1, HL—A2, HL—A3, HL—A9, HL—A10 and HL—A11 of the first series, and HL—A5, HL—A7, HL—A8, HL—A12, HL—A13, W5, W14, W15, W17, W18, W22, W27 and possibly W10 of the second series.The distribution of antigens on the various blood cells using cells from the same donor was also investigated, and it was found that the same HL—A antigens were present on platelets, granulocytes and lymphocytes.
The HL‐A and ABO Antigens in Trophoblastic Disease
Authors: MITTAL KAMAL K. , KACHRU RAJ B. , BREWER JOHN I. 
Published: July 2010

No statistically significant deviations in phenotype frequencies of the 25 HL‐A antigens or the ABO antigens were seen when 111 Caucasian patients with trophoblastic disease were compared with 1,259 healthy Caucasian controls. However, an increase in the incidence of HL‐A11 was found in 39 patients who currently had the disease, but not in 72 who had recovered from the disease. Further, an increase in the frequency of W18 was observed among 18 patients who currently had‘invasive’disease (choriocarcinoma or invasive mole), but not in 44 who had recovered from such disease. If valid for larger patient population, these increases may suggest association of HL‐All and W18 with the‘morbidity’of the trophoblastic disease.No increase in histocompatibility was seen in 45 patient‐couples over 67 control‐couples in terms of decrease in the number of male spouse's HL‐A incompatibilities, and no significant difference was seen in the distribution of pregnancies in the two groups. No significant difference was observed in the incidence of different male‐female combinations of ABO blood groups between 95 patient‐couples and an equal number of control‐couples.Lymphocytotoxic antibodies were found in 64 patients (158 sera) or 36% of the 178 patients (413 sera) examined. HL‐A specific antibodies were found in 30 or 17% patients (39 sera). Of these 30, 24 patients had molar pregnancies and six had choriocarcinoma. Whether these antibodies have a role in the destruction of neoplastic tissue remains to be determined.
HLA Antigens and Susceptibility to Psoriasis Vulgaris in a Non‐Caucasian Population
Authors: Tsuji K. , Nose Y. , Ito M. , Ozawa A. , Matsuo I. , Niizuma K. , Ohkido M. 
Published: July 2010

Fifty‐four unrelated Japanese patients with psoriasis vulgaris were tissue typed using the Sixth International Histocompatibility Workshop antisera. Two control groups were included in this study: Thirty‐one pustulosis palmaris et plantaris and 17 seborrheic dermatitis as a disease control and 66 normal, healthy, unrelated Japanese as a reference.HLA‐A1 (P = 0.0065) from the A locus and HLA‐BW37 (P = 0.0164) from the B locus were found to occur with increased frequency in patients with psoriasis vulgaris. No significant difference in antigen frequencies in pustulosis palmaris et plantaris was found, however, HLA‐AW30 and/or AW31 and HLA‐B12 occurred with increased frequency in seborrheic dermatitits. No linkage between psoriasis and HLA was observed in eight families. Therefore our findings in Japanese do not confirm the previous observation made in Caucasians of an association between psoriasis vulgaris and HLA‐B13 or BW17.
Permanent Lymphoid Lines from Genetically Marked Lymphocytes: Success with Lymphocytes Recovered from Frozen Storage
Authors: Sly William S. , Sekhon Gurbax Singh , Kennett Roger , Bodmer Walter F. , Bodmer Julia 
Published: July 2010

Permanent human lymphoid cell lines were established successfully from peripheral blood lymphocytes which had been separated for HL‐A typing and stored in liquid nitrogen for two years. Frozen lymphocytes were chosen from two siblings who were homozygous at the LA and FOUR HL‐A loci. Thawed lymphocytes were transformed with EB virus produced by the marmoset lymphoid line B95–8. No chromosome abnormalities were seen on karyotypes prepared on cells from the established human lymphoid lines using G and Q banding techniques. HL‐A typing showed the expected HL‐A antigens plus a considerable number of additional reactions.Separation of lymphocytes and freezing them for possible future use requires a relatively small investment. This method of preserving cells can be applied to patients with interesting genetic disorders or other biochemical markers to provide cells which can be transformed and propagated years later.
HLA–Dw3 in Sjögren's Syndrome
Authors: Hinzová Eva , Iványi Dagmar , Šula K. , Hořejš J. , Dostál C. , Dřízhal I. 
Published: July 2010

The increased frequency of HLA‐B8 in Sjögren's syndrome was recently reported independently by Gershwin et al. (1975) and Iványi et al. (1976).The association of HLA‐B8 antigen with other diseases, characterized generally by impaired immunologic reactivity, has been shown (see Svejgaard et al. 1975, Dausset & Hors 1975), and in some of these diseases MLC typing has revealed the strong association also with the Dw3 determinant. The degree of association with each of the two, B8 and Dw3, varied between different diseases, in some of them having been reported to be higher for antigen B8 (Möller et al. 1976) and in the others for the determinant Dw3 (Thomsen et al. 1975, 1976). In some of the diseases, the association was found to be equally strong for both determinants (Solheim et al. 1976, Thorsby et al. 1975).In this communication, we describe the typing of HLA—Dw3 in 29 patients with Sjögren's syndrome (Ss). They represent part of the experimental group reported in a previous study (Iványi et al. 1976).
Association between HLA Determinants and Complement Receptors on Human Lymphocytes
Authors: Galili Uri , Brautbar Chaim , Schlesinger Michael 
Published: July 2010

The relationship between the major histocompatibility complex (MHC) and functional receptors on the surface of human lymphocytes was studied. HLA antisera were tested for their effect on the formation of E‐, EA‐, and EAC'‐rosettes by human peripheral blood lymphocytes (PBL). Antisera to various HLA specificities inhibited the formation of EAC'‐rosettes, but had no effect on the formation of E‐rosettes. The formation of EA‐rosettes was inhibited by HLA antisera only in part among the individuals tested. Anti β2‐microglobulin serum resembled HLA antisera in its effect on the formation of the various rosettes.HLA determinants and complement receptors are different entities on the cell surface since elimination of complement receptors by trypsin treatment does not seem to affect the expression of HLA antigens on the cell surface. It is suggested that EAC’receptors are located close to HLA determinants.
Detection of B‐Cell‐Specific Alloantibodies in Pregnancy Sera in the Lymphocytotoxicity and the Indirect Immunofluorescence Techniques
Authors: Décary F. , van Helden‐Henningheim L. , van Griethuysen D. , Helmerhorst F. M. , van Der Werf A. J. M. , Engelfriet C. P. 
Published: July 2010

Two hundred and eight pregnancy sera were tested for the presence of antibodies specific for lymphocyte sub‐populations by using the isolated B and T lymphocytes from the women's mating partners. This was done by the microlymphocytotoxicity and the indirect immuno‐fluorescence techniques. Five sera (2.5%) reacted exclusively with B lymphocytes and sixty‐three sera (30.2%) reacted with both B and T lymphocytes; none of the sera was specific for T cells.Several sera, reacting with both B and T lymphocytes, were absorbed with platelets and this procedure revealed nine additional antisera specific for B lymphocyte antigens.Specificity studies on a panel of forty‐eight HLA—ABCD typed individuals indicated that most antisera possibly defined new B‐cell antigens. Family studies established that the antigens defined by these antisera were coded for by genes in the Major Histocompatibility Complex.
Discrimination of T, B, and Null Lymphocytes by Electronic Sizing1
Authors: El‐Awar Nadim , Terasaki Paul I. , Perdue Sondra , Cicciarelli James , Mickey Max R. 
Published: July 2010

T, B, and null lymphocytes isolated by sheep red blood cells (SRBC) rosetting or adherence to a nylon wool column had distinct size differences according to Coulter counter size analysis. The diameters in microns were as follows: B = 6.42, T = 6.76, null = 7.16, granulocytes = 8.42, and monocytes = 9.02. Coulter size distributions of cell preparations were compared to the proportions of cells with E, EAC, and surface immunoglobulin (SIg) markers in these preparations as well as their reactivity to HLA‐DR antisera and rabbit anti‐B‐lymphocyte antisera.Cell preparations monitored by Coulter sizing produced the expected results in mixed lymphocyte culture (MLC) testing. That is, T cells responded but did not stimulate whereas B lymphocytes and monocytes stimulated but did not respond. NULL lympocytes both stimulated and responded. In antibody‐dependent cell‐mediated cytotoxicity (ADCC), null lymphocytes and monocytes functioned as effectors, whereas Tlymphocytes and granulocytes did not.B lymphocyte preparations were intermediate in activity. Coulter sizing is a rapid, simple means of assessing the purity of suspensions enriched for T, B, and null lymphocytes.
Avoidance of Certain Systematic Pitfalls in the Detection of HLA–DR Antibodies Defining Fine Specificities
Authors: Müller Claudia , Fink Doris , Müller G. , Wernet P. 
Published: July 2010

A selective screening program has been established to identify rapidly and effectively the fine specificity of HLA‐DR antibodies in pregnancy anti‐HLA sera. Following initial HLA‐A, B, C screening sera with extra‐ or multispecific reactions were selected and specifically tested after platelet absorption on isolated B‐ and T‐lymphocyte populations of the serum donor's husband. Identification of the HLA‐DR type of the husband, as well as screening and typing on HLA, A, B and ‐C typed heterozygous panel B cells led to a more precise characterization of the major specificity of a detected anti‐HLA‐DR serum. Multispecific anti‐DR sera were defined and rendered operationally monospecific by titration.Some critical steps in a reliable assessment of HLA‐DR typing reagents could be worked out. Weak HLA‐A, B antibodies, B‐cell auto‐ and Lewis antibodies may cause positive reactivity preferentially or even selectively on B lymphocytes. Of particular importance was the hidden presence of HLA‐C specific antibodies, since they cannot be absorbed out by stored platelets. In addition they are not readily detectable through screening on typed panel cells. Because of the frequently very high linkage disequilibrium between HLA‐B and HLA‐C alleles it is difficult to select appropriately dissecting panel cells. The two points demonstrated above gain even more weight when isolated T and B cell populations are used for HLA‐DR typing, because HLA‐C antibodies preferentially kill B cells. In this fashion contaminating HLA‐C antibodies are not only difficult to detect but can mimic the presence of HLA‐DR antibodies.
HLA‐A, B Typing in Basque and other Pyrenean Populations
Authors: de Mouzon A. , Constans J. , Sommer E. , Sevin A. , Quilici J. C. , Fernet P. , Ducos J. , Ohayon E. 
Published: July 2010

Fourteen HLA‐A and 18 HLA‐B antigens were studied in three samples of Pyrenean populations: 198 unrelated individuals of a “Pays Basque” group; 212 non‐Basque individuals from a valley in Beam, l'Ouzom; and 73 non‐Basque individuals from the neighboring valley of Bareges.The results in the Basque and the non‐Basque people from l'Ouzom were comparable: the gene frequencies of HLA‐A29, Aw19.2, B17 were increased and the haplotypes HLA ‐ Aw 19.2, B18; A29, B12; A2, B5; Al, B17 were found frequently with a striking linkage disequilibrium; HLA‐B18 had an increased gene frequency in all these Pyrenean populations, while Bw35 was frequent in l'Ouzom and Bareges, but not among the Basques. The characteristics of Bareges were very different: the gene frequencies of HLA‐A2, All, B7 were increased while the frequency of HLA‐B5 was low; the most characteristic haplotypes were HLA‐A2, B12; A2, B18; All, Bw35; All, B27.It is interesting to note discrepancies between ethnic and HLA classification of the Basques and the non‐Basque population of l'Ouzom. The HLA characteristics are quite different in the Bareges sample, more closely resembling those of Northern Europe.
Antibodies against Donor Antigens on Endothelial Cells and Monocytes in Eluates of Rejected Kidney Allografts
Authors: Claas F. H. J. , Paul L. C. , van Es L.A. , van Rood J. J. 
Published: July 2010

Acidic eluates from two rejected kidney allografts contained antibodies reacting only with the endothelial cells and the monocytes of the specific kidney donors. No reaction was observed with the B‐cells or the T‐cells of these donors.When these eluates were tested against the leukocytes of healthy blood donors that were typed for HLA‐A, ‐B, ‐C and DR, positive reactions were observed with the monocyte but not with the lymphocyte fraction. The first eluate reacted with 6.4% of the donors and the second eluate with 38.3%. No correlation with any of the HLA‐A, ‐B, ‐C or DR antigens was found.If a more extended study proves that the endothelial‐monocyte antigens do play an important role in kidney transplantation, matching of donors and recipients for these antigens and crossmatching recipient serum with donor monocytes may become a necessity in the future.
The Blocking Effect of Antibodies Against the Products of the H‐2 Gene Complex on Lymphocyte Complement (C3d) Receptors. Complement Dependence and Specificity
Authors: Bishop C. , Demant P. , Capel P.J.A. 
Published: July 2010

Antisera against the products of the major histocompatibility system (MHS), produced by immunization between congenic mouse strains differing only at that segment of the 17th chromosome which bears the H‐2 gene complex, exert a reproducible blocking effect on formation of rosettes with EACm (C3d rosettes). In many instances this effect is probably due to specific antibodies reactive with the lymphocytes, as indicated by immunochemical and adsorption experiments. Purified antibodies from the C3H anti‐C3H.B10 immune ascites failed to exert this blocking effect. The blocking capacity can be restored, however, by addition of fresh normal mouse, rabbit or fetal calf serum, but not by heat inactivated serum.These experiments show that the presently defined H‐2K, H‐2D and H‐2L antigens as well as some la antigens are themselves not the C3d receptors. The blocking effects observed in the presence of complement are possibly due to the proximity of H‐2 or la molecules and C3d receptors, or to a rearrangement of membrane components after reaction with anti‐MHC antibodies and complement.
Human B‐Blast Specific Target Determinants in CML:
Authors: Study A Panel , Johnsen H. E. 
Published: July 2010

The B blast specific target determinant phenotype defined by cytotoxic lymphocytes and the HLA‐DR phenotype was tested for correlation in two panel studies.First, CTL reagents with B blast specificity were selected from CTLs educated between HLA‐A, B, (C) identical unrelated donors giving no cytotoxicity with specific T blasts, resulting in free selection of panel B blasts used as targets. Second, CTLs educated between HLA non‐identical unrelated donors giving cytotoxicity against specific T as well as B blast targets could be seen with negative reactions against T blasts but positive reactions against B blasts of selected panel members giving, in this set up, a free selection of donors cocultured for education of CTLs.These panel studies showed that HLA‐DR associated B blast specific target determinants can be identified by CTLs, indicating that the HLA system codes for these determinants either through gene products of a locus closely linked to or identical with the HLA‐DR locus.