Split hand/split foot (SHSF; also known as ectrodactyly) is a human developmental disorder characterized by missing central digits and other distal limb malformations. An association between SHSF and cytogenetically visible rearrangements of chromosome 7 at bands q21-q22 provides compelling evidence for the location of a causative gene at this location, and the locus has been designated SHFD1. ...

The human congenital syndromes ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome, ankyloblepharon ectodermal dysplasia clefting, and split-hand/foot malformation are all characterized by ectodermal dysplasia, limb malformations, and cleft lip/palate. These phenotypic features are a result of an imbalance between the proliferation and differentiation of precursor cells during developme...

p53 and p63 share extensive sequence and structure homology. p53 is frequently mutated in cancer, whereas mutations in p63 cause developmental disorders manifested in ectodermal dysplasia, limb defects, and orofacial clefting. We have established primary adult skin keratinocytes from ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) syndrome patients with p63 mutations as an in vit...

The authors in Octorber 1975 encountered a case that visited their hospital with the chief complaint of deformity of both middle fingers. The case closely resembled brachyhyperphalangism, but no definite diagnosis could be obtained as a findings suggestive of deltaphalanx was present in some phalanges and some ·took the view that polydactylous change of the middle finger was suggested. However,...

Fluorescence excitation-emission matrix (EEM) spectroscopy coupled with parallel factor analysis (PARAFAC) is an established tool of organic matter fingerprinting in aqueous systems. Recently, EEMPARAFAC has been successfully applied in drinking water treatment for simple, rapid, and sensitive evaluation of organic matter removal during different treatment processes. This review describes some ...

BACKGROUND Aberrant crypt foci (ACF) are considered to be useful as surrogate biomarker for colorectal cancer (CRC), but the biological significance of ACF remains controversial. We attempted to investigate the relationship between the presence of ACF and human colorectal carcinogenesis using a relatively large sample size. METHODS We carried out high-magnification chromoscopic colonoscopy to...

An asymptomatic atypical U shaped cleft hand has been found in a 21-year-old lady attending OPD. On digital skiagram it was found that central digits were absent with remnants of bases of the metacarpals, which have fused with the carpal bones. Moreover, the scaphoid and trapezium had fused to form a single mass. There was no other anomaly in other limbs, so far searched for. An endeavor has be...

BACKGROUND Focal dermal hypoplasia (also known as Goltz syndrome) is an X-linked dominant syndrome characterized by patchy hypoplastic skin with soft-tissue, skeletal, dental, and ocular defects that are secondary to mutations in the PORCN gene. To our knowledge, only 5 cases of focal dermal hypoplasia with unilateral presentation have been reported, and molecular studies were not performed in ...

p63 is a developmentally regulated transcription factor related to p53, which activates and represses specific genes. The human AEC (Ankyloblepharon-Ectodermal dysplasia-Clefting) and EEC (Ectrodactyly-Ectodermal dysplasia-Cleft lip/palate) syndromes are caused by missense mutations of p63, within the DNA-binding domain (EEC) or in the C-terminal sterile alpha motif domain (AEC). We show here t...