facies/tyrosine

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

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Ielogoties Reģistrēties

Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A ) is a highly conserved gene located in the Down syndrome critical region. It has an important role in early development and regulation of neuronal proliferation. Microdeletions of chromosome 21q22.12q22.3 that include DYRK1A

Anatomy of the human orbital muscle (OM): Features of its detailed topography, syntopy and morphology.

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Ielogoties Reģistrēties

The human orbital muscle (OM) is not readily accessible during ordinary anatomical teaching because of insufficient time and difficulties encountered in the preparation. Accordingly, its few anatomical descriptions are supported only by drawings, but not by photographs. The aim of this study was to

Okamoto syndrome in a girl of Caucasian origin.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

We report the clinical and genetic evaluation of a 2-year-old Greek female with striking phenotypic similarities to the three previously published cases of Okamoto syndrome. The main features were characteristic facies, cleft palate, generalized hypotonia, severe developmental delay, congenital

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Multiple endocrine neoplasia type 2B (MEN 2B), or the mucosal neuroma syndrome, is an autosomal dominant hamartoneoplastic syndrome. Features include multiple mucosal neuromas, phaeochromocytoma, medullary thyroid carcinoma, and Marfanoid body habitus with a characteristic dysmorphic facies. The

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

OBJECTIVE Noonan syndrome (NS) is inherited as an autosomal dominant disorder with dysmorphic facies, short stature, and cardiac defects, which can be caused by missense mutations in the protein tyrosine phosphatase nonreceptor type 11 (PTPN11) gene, which encodes src homology region 2 domain

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Noonan syndrome is a developmental disorder with dysmorphic facies, short stature, cardiac defects, and skeletal anomalies, which can be caused by missense PTPN11 mutations. PTPN11 encodes Src homology 2 domain-containing tyrosine phosphatase 2 (SHP2 or SHP-2), a protein tyrosine phosphatase that

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Noonan syndrome (NS) is an autosomal dominant disorder presenting with characteristic facies, short stature, skeletal anomalies, and congenital heart defects. Mutations in protein-tyrosine phosphatase, nonreceptor-type 11 (PTPN11), encoding SHP-2, account for 33-50% of NS. This study screened for

Robinow syndrome.

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Ielogoties Reģistrēties

In 1969, Robinow and colleagues described a syndrome of mesomelic shortening, hemivertebrae, genital hypoplasia, and "fetal facies". Over 100 cases have now been reported and we have reviewed the current knowledge of the clinical and genetic features of the syndrome. The gene for the autosomal

Germ-line and somatic PTPN11 mutations in human disease.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses to extracellular stimuli, and its deregulation frequently drives aberrant cell proliferation, survival and/or

The expanding phenotypes of cohesinopathies: one ring to rule them all!

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Ielogoties Reģistrēties

Preservation and development of life depend on the adequate segregation of sister chromatids during mitosis and meiosis. This process is ensured by the cohesin multi-subunit complex. Mutations in this complex have been associated with an increasing number of diseases, termed cohesinopathies. The

RET proto-oncogene: a review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Hereditary medullary thyroid carcinoma (MTC) is caused by autosomal dominant gain-of-function mutations in the RET proto-oncogene. Associations between specific RET mutations (genotype) and the aggressiveness of MTC and presence or absence of other endocrine neoplasms (phenotype) are well

Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

Rakstu tulkošanu var veikt tikai reģistrēti lietotāji

Ielogoties Reģistrēties

Noonan syndrome, the most common single-gene cause of congenital heart disease, is characterized by short stature, characteristic facies, learning problems and leukemia predisposition. Gain-of-function mutations in PTPN11, encoding the tyrosine phosphatase SHP2, cause approximately 50% of Noonan

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