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At least 1,657 records · Page 92Linked to original sources
PubMed2003

P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome.

p63, a p53 family member, is required for craniofacial and limb development as well as proper skin differentiation. However, p63 mutations associated with the ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome (Hay-Wells syndrome) were found in the p63 carboxyl-terminal region with a sterile alpha-motif. By two-hybrid screen we identified several proteins that interact with the p63alpha carboxyl terminus and its sterile alpha-motif, including the apobec-1-binding protein-1 (ABBP1). AEC-associated mutations completely abolished the physical interaction between ABBP1 and p63alpha. Moreover the physical association of p63alpha and ABBP1 led to a specific shift of FGFR-2 alternative splicing toward the K-SAM isoform essential for epithelial differentiation. We thus propose that a p63alpha-ABBP1 complex differentially regulates FGFR-2 expression by supporting alternative splicing of the K-SAM isoform of FGFR-2. The inability of mutated p63alpha to support this splicing likely leads to the inhibition of epithelial differentiation and, in turn, accounts for the AEC phenotype.

Abnormalities, Multiple↗
PubMed1993

EC syndrome in a girl with paracentric inversion (7)(q22.1;q36.3).

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome associated with a paracentric inversion of chromosome 7 in a 2-year-old Japanese girl is reported. She had sparse and light-brown hair, bilateral cleft lip and palate, fused lower incisors, a pigmented skin lesion at the neck, accessory nipples, limited extension of elbow joints and bilateral ectrodactyly of hands and feet. Cytogenetic studies demonstrated a balanced inv(7)(q22.1;q36.3) in the patient and her father. The association of EEC syndrome and inv(7) in the patient suggested a putative locus of the EEC syndrome gene either at 7q22.1 or 7q36.3, although a coincidental occurrence of the two conditions is an alternative explanation. A comparison with reported karyotypes in patients with EEC or isolated ectrodactyly favoured 7q22.1 as the locus. A normal phenotype of the father in our family might reflect reduced penetrance of the EEC syndrome or, possibly, reduced expression of a maternally-derived allele of the EEC syndrome gene through a genomic imprinting mechanism.

Abnormalities, Multiple↗
PubMed1998

[Dental anomalies in some hereditary syndromes observed by the authors].

BACKGROUND: The ectodermal hypohidrotic dysplasia, Marfan and Robinson syndromes are hereditary syndromes. They are characterized by teeth anomalies associated with system anomalies. The purpose of the present study is an analysis of single dental anomaly cases in personally observed syndromes. METHODS: The dental arch radiographs of 8 patients suffering from hereditary syndromes characterized by teeth anomalies have been studied. These dental anomalies have been classified--from an anatomic-clinical viewpoint--as to number (missing/exceeding teeth), shape, position, volume (too much/too little), eruption (early/late, till inclusion) and structure (enamel, dentine, cement). For each syndrome, the kind of transmission, the kind of dental anomaly (isolated or associated), the prevailing, the kind of association among the various dental anomalies have been evaluated. CONCLUSIONS: The most frequently observed anomaly among the examined syndromes has been the number associated to shape. The 95.4% of the specimen presented association between different dental anomalies. The results of the observation confirm the well documented ontogenetic and etiopathogenetic relationship between genetics, dental genesis, morphogenesis, teeth eruption and growth. Dental anomalies observation should direct the surgeon towards considering the presence of other signs and symptoms when tracing out probable and more complex--sometimes recessive--syndrome outlines.

Abnormalities, Multiple↗
PubMed1979

Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome.

A female child with brachycephaly, hypertelorism, convergent strabismus, interstitial keratitis, analgesia on both sides of the face, absent corneal reflexes, and focal congenital alopecia of a zone of the occipital and posterior parietal scalp is presented. The patient also had generalized hypotonia in early life, and at age 4 years 9 months, she was found to be moderately mentally subnormal and to have severe cerebellar deficit consisting of gait and truncal ataxia. There was no clinical evidence of other cranial nerves being affected. It is postulated that the patient has a cerebellotrigeminal and focal dermal dysplasia due to a development arrest of the ectoderm, which gives rise to the alar plate of the rhombencephalon, the overlying epidermis, the motor nucleus of V, and the trigeminal placodes.

Alopecia↗
PubMed2003

Developmental biology and building a tooth.

During the last 15 years, we have started to understand tooth development at the gene level. The list of genes known to regulate the position, shape, or number of teeth is lengthening rapidly. Interestingly, so far all these genes have important functions in the mediation of cell communication, which is generally considered the most important mechanism driving embryonic development. The communication is mediated by small signal molecules that are sent to nearby cells, thereby affecting their behavior and advancing differentiation. There are dozens of different signals and their receptors and target genes, which together form complicated signaling networks. The defects in several human conditions affecting tooth development have been identified recently, and these genes have turned out to be necessary components of signaling networks. Experimental studies using transgenic mice as models for human syndromes such as ectodermal and cleidocranial dysplasia have pinpointed the exact roles of the disease genes and indicated ways for possible new therapies. It is also possible that by combining the knowledge of molecular regulation of tooth development with the recent breakthroughs in stem cell research, dreams of building new teeth in dental practice may come true in the future.

Animals↗
PubMed1979

[Jadassohn's nevus sebaceus and nevus unius lateris. Report of an observation with multiple dysplasia (author's transl)].

The case of a female patient with multiple ectodermal and mesodermal malformations present since birth is reported. The cutaneous lesions were of two types: Jadassohn's nevus sebaceus and nevus unius lateris. These entities have been described in the literature as congenital dermatologic alterations of nevoid character and organoid structure. They can be considered as congenital epidermal nevi. In many cases, including this one, there are various associated disorders especially of the nervous system, eyes, and skeleton. Both syndromes are cutaneous hamartomas which can be differentiated histologically but not by the anomalies accompanying them. Their dermatologic aspects are very similar. The histopathologic characteristics of the skin lesions of nevus unius lateris consist of hyperkeratosis, acanthosis, and epidermal papillomatosis. In Jadassohn's nevus sebaceus there are also alterations of the skin adnexa, namely the absence of hair follicles and the presence of numerous mature sebaceus and hyperplastic glands. In general, the presence of organoid nevus may be a sign of multiple ectodermal and mesodermal malformations. Both syndromes are often present in the same patient, as in the case described here, and their etiology is the same. It is based on an alteration in embryogenic development affecting primarily, though not exclusively, the formations of ectodermal origin. Thus Jadassohn's nevus sebaceus and nevus unius lateris are both forms of phacomatosis. Clinical cases have in common the cutaneous cited above, either in combination or singly. The other possible signs and symptoms are variable, depending on which stage of embryogenic development is affected. There may be defects in the structures of both ectodermal and mesodermal origin.

Adult↗