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J Greally

Publications and source records attributed to J Greally.

At least 19 recordsLinked to original sources
PubMed1999

Identification, chromosomal assignment, and expression analysis of the human homeodomain-containing gene Orthopedia (OTP).

Homeodomain (HD) genes are helix-turn-helix transcription factors that play key roles in the specification of cell fates. In the central nervous system (CNS), HD genes not only position cells along an axis, but also specify cell migration patterns and may influence axonal connectivity. In an effort to identify novel HD genes involved in the development of the human CNS, we have cloned, characterized, and mapped the human homologue of the murine HD gene Orthopedia (Otp), whose product is found in multiple cell groups within the mouse hypothalamus, amygdala, and brain stem. Human cDNA and genomic libraries were screened with probes derived from mouse Otp sequences to find the human homologue, OTP. The deduced amino acid sequence of the open reading frame of the human cDNA is 99% homologous to mouse Otp and demonstrates a high degree of conservation when compared to sea urchin and Drosophila. OTP was mapped to human chromosome 5q13.3 using radiation hybrid panel mapping and fluorescence in situ hybridization. Flanking markers were identified from YAC clones containing OTP. A single putative OTP gene product was found in 17-week human fetal brain tissue by Western blot analysis using a novel polyclonal antibody raised against a conserved 13-amino-acid sequence at the C-terminus of the OTP protein. Expression in the developing human hypothalamus was confirmed by immunohistochemistry.

Amino Acid Sequence↗
PubMed1991

Immunoglobulin G subclasses and spirometry in patients with chronic obstructive pulmonary disease.

Immunoglobulin G (IgG) subclass levels were measured in 58 patients with chronic obstructive pulmonary disease (COPD) and in 125 healthy controls. Total IgG values were significantly lower in the 27 COPD patients on steroid therapy compared with patients not taking steroids (8.31 (0.14) vs 9.80 (0.14), p less than 0.05), geometric mean (log SD). Total IgG (9.80 (0.14) vs 12.18 (0.16), p less than 0.005), IgG1 (5.87 (0.19) vs 6.68 (0.12), p less than 0.05) and IgG2 levels (2.75 (0.21) vs 3.70 (0.20), p less than 0.005) were significantly reduced in the COPD patients not taking steroids compared with the controls. IgG3 values were significantly elevated in smokers compared with nonsmokers in both the control and COPD groups. Fifteen COPD patients (25.9%) had a low level of one or more subclasses. IgG2 subclass deficiency was the most common, being present in 9 patients. A significant correlation was found between forced expiratory volume in one second (FEV1) and IgG2 subclass levels (r = 0.415; p less than 0.005). IgG subclass deficiencies may contribute to the development and progression of respiratory disease in COPD patients.

Adult↗
PubMed1989

Antibodies to Epstein-Barr viral antigens in familial rheumatoid arthritis.

Serum antibodies to Epstein-Barr virus (EBV) were measured in members of twenty-nine families in which two or more first degree relatives had rheumatoid arthritis (RA). These patients were assessed clinically for activity of disease and their treatment recorded. A higher proportion of seropositive individuals was found among patients and affected kindred than among the non-affected groups. Antibody titres to Viral Capsid Antigen (VCA) tended to be higher in patients and affected kindred. In those individuals in whom antibody to Early Antigen (EA) was present there was a lower titre of antibody to Epstein-Barr Nuclear Antigen (ENBA). The results suggest that an immunoregulatory defect may exist in some patients with RA which allows for enhanced expression of EBV.

Antibodies, Viral↗
PubMed1986

A multicase family study of rheumatoid arthritis in south west Ireland.

A study of 26 families with multiple cases of RA was conducted in South West Ireland. In 149 relatives examined, 67 cases of RA were identified. An analysis of affected sibling pairs and trios revealed significant linkage between HLA and RA (p less than 0.05). A high frequency of DR4 was observed in probands (80.7 per cent) and affected members (74.6 per cent) compared with controls (18 per cent). An elevated frequency of the haplotypes A2-B44-DR4 (19.2 per cent) and A2-Bw62-DR4 (5.7 per cent) was seen in the affected sample. HLA-Bw62 was at raised frequency in probands (19.2 per cent) compared with controls (9 per cent). The haplotype frequency of A2-B44-DR4 was raised in affected females and A2-Bw62-DR4 in affected males. A low haplotype frequency of A1-B8-DR3 was found in all RA subjects. Disease severity (clinical and radiological criteria) was associated with DR4, but this did not reach statistical significance. A high incidence of extra-articular features of RA was observed, with DR4 occurring in all cases of vasculitis (75 per cent of whom were DR4 homozygous).

Adult↗
PubMed1985

C1-inhibitor--biochemical properties and clinical applications.

C1-inhibitor (C1-INH) is an alpha-2-neuraminoglycoprotein with a molecular weight of 105,000 daltons. It has a broad spectrum control of the many blood cascades including the complement system. Inherited deficiency of this molecule has been associated with the development of hereditary angioneurotic edema (HANE), a dominant genetic disorder. The liver and monocytes are the primary sites of C1-INH synthesis. The genetic basis of dysfunctional C1-INH is a defect at the structural locus for one C1-INH gene; both the dysfunctional C1-INH gene and the normal C1-INH gene products are present in the plasma of the affected person. The absence of C1-INH permits spontaneous activation of the first component of the complement system (C1); this, in turn, activates C4 and C2. A kinin derived from C2 may be elaborated, which then increases vascular permeability. However, recent investigations have indicated that kinin activity generated from C1-INH-depleted plasma is not derived from C2 but implicates kallikrein, an enzyme which is also controlled by C1-INH, in the formation of a kinin which is most probably bradykinin. A number of therapeutic approaches have been used to treat HANE patients, including antifribrinolytic drugs such as tranexamic acid, plasma infusion, and steroids. The anabolic steroids such as danazol and stanazolol have been used widely to treat HANE patients. We discuss in this review the potential mechanisms by which danazol promotes selective synthesis of C1-INH and several other proteins in the liver.

Angioedema↗
PubMed1982

Epstein-Barr virus in normal pregnant women.

Acquired immune suppression accompanying normal pregnancy may be associated with reactivation of Epstein-Barr virus (EBV). Pregnant women with reactivated EBV having anti-EA antibodies show high titers of antiviral capsid antigen (VCA) geometric mean titers (GMT) of 522 versus 170 in those lacking anti-early antigen (EA). Among twenty-seven seropositive women at parturition, 17 (63%) had generated antibody to EA, and all 27 (100%) demonstrated significant increases in antibody to VCA (p less than 0.01). In contrast, antibody titers to cytomegalovirus, herpes hominis, varicella-zoster, and rubella viruses in the pregnant women were comparable to those found in nonpregnant controls. (Am J Reprod Immunol. 1982; 2:217-221.)

Adult↗
PubMed1979

Acute myeloid leukaemia occurring in untreated chronic lymphatic leukaemia.

A case of acute myeloid leukaemia (AML) occurring in a patient with untreated chronic lymphatic leukaemia (CLL) is presented. The diagnosis of two simultaneous leukaemic processes is based on morphological, cytochemical and immunological findings. The significance of the development of AML in patients with CLL is discussed.

Aged↗
PubMed1978

Intracellular lambda light chain inclusions in chronic lymphocytic leukaemia.

A case of chronic lymphocytic leukaemia (CLL) with intracytoplasmic crystalline inclusions in peripheral blood lymphocytes is presented. The inclusions were identified as crystals of lambda (lambda) light chain and were present in bone marrow derived (B-cells) lymphocytes. The occurrence of light chain crystals in CLL may reflect a more primitive defect in immunoglobulin (Ig) synthesis, intracellular transport or secretion than has previously been reported.

Aged↗