criminate between driver and passenger mutations, as was also shown recently in the context of FLT3. In the MOLT-4 and RPMI-8402 cell lines, we identified another transcript variant, which lacks exons 7 and 8 (nucleotides 648-1178). This results in a shift in the open reading frame with generation of a premature stop codon in exon 9. Consequently, a truncated form of JAK1 is expressed in these ...

Background Familial amyloid polyneuropathy (FAP ATTRV30M) is an autosomal dominant systemic amyloidosis, due to a point mutation in the transthyretin (TTR) gene (chr18q12.1). The most frequent one, V30M is associated with several clusters. Among Portuguese families, FAP shows a wide variation in in age-at-onset (AO) [19-82 yrs] and this variability is also apparent between generations. Also, si...

Intergenerational Income Persistency in Urban China Intergenerational income elasticities are estimated using samples for urban China (covering many cities) for the years 1995 and 2002 and compared with results from other studies. We find that the income relation between the pairs: sons and fathers, sons and mothers and daughters and mothers, are in 2002 all similar in magnitude. In contrast th...

We report on a father and son who have an interstitial deletion of 5p14. The father is clinically and mentally normal while the son has significant clinical involvement including microcephaly, seizures, and global developmental delay. The extent of the 5p14 deletion was determined using fluorescence in situ hybridisation (FISH). The deletion in this present family is smaller than a deletion pre...

This study presents a thorough review of the literature on intergenerational income mobility with focus issues regarding consistent estimation correlations. In light discussions, association in Turkey is analyzed using OLS and IV strategies. The sample extracted from Household Budget Surveys includes father-son father-daughter pairs either non-zero wages or earnings living same household any ye...

This report represents the suspected familial case series of odontogenic keratocysts OKCs related to Gorlin Goltz syndrome GGS, a rare genetic disorder characterized mainly by multiple basal cell carcinomas, OKCs and other less frequent skeletal and neurological manifestations. Familial cases included grandmother's father, grandmother, father and son. Although they had all OKCs, father addition...

Empirical evidence suggests that parents who have themselves inherited from their own parents are more likely to leave an estate to their children even after controlling for income, wealth and education. This implies an indirect reciprocal behavior between three generations by transmitting the attitude towards bequeathing from one generation to the next. We incorporate such an intergenerational...

Interstitial deletions of chromosome 22q11.2 are associated with several birth defects and malformations, which include DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. These were all initially described as separate entities, but are now considered to be part of the spectrum of the same condition. The CATCH22 acronym was proposed to encompass this phenotypic variability, but ...