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Proline-directed protein kinase FA as a new signal transducing target for lethal cancer treatment.

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Proline-directed protein kinase F(A) (PDPK F(A)) has been established as a multisubstrate/multifunctional PDPK essential for the development of highly malignant phenotypes and rapid progression of lethal cancers. The recent immunohistochemical, immunocytochemical and clinicopathologic studies

[A new case of hemoglobin G Georgia (author's transl)].

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A new case of hemoglobin G Georgia (alpha95 Pro yields Leu) is described in a portuguese patient with lymph node tuberculosis. The patient had a slight anaemia with haemolytic crises and moderate splenomegaly. The electrophoretic mobility of this unstable, abnormal haemoglobin was slower than that

Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients.

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A recently initiated collaboration between Russian and American institutions has resulted in the characterization of several known or new beta-thalassemia alleles and unstable hemoglobin types. Nine known beta-thalassemia alleles were present which have also been found in Mediterranean, East Asian,

Hemoglobin Crete (beta 129 ala leads to pro): a new high-affinity variant interacting with beta o -and delta beta o -thalassemia.

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Hemoglobin Crete, beta129 (h7)ala leads to pro, is a new mutant hemoglobin (Hb) with high oxygen affinity that was discovered in a Greek family in various combinations with beta- and deltabeta-thalassemia. The propositus, who presented an unusual clinical picture of an "overcompensated" hemolytic

A Mouse Model for Human Unstable Hemoglobin Santa Ana.

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In the present study, we described the phenotype, histologic morphology, and molecular etiology of a mouse model of unstable hemoglobin Santa Ana. Hematologic evaluation of anemic mice (Anem/+) discovered after N-ethyl-N-nitrosourea mutagenesis revealed moderate anemia with intense reticulocytosis

A novel avian isolate of hepatitis E virus from Pakistan.

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Avian hepatitis E virus (aHEV) has been associated with hepatitis-splenomegaly syndrome (HSS) in chickens along with asymptomatic subclinical infection in many cases. So far, four genotypes have been described, which cause infection in chickens, specifically in broiler breeders and

Prolidase deficiency: report of a second case with quantitation of the excessively excreted amino acids.

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The second documented case of prolidase deficiency is presented. Clinical manifestations include chronic otitis media and sinusitis, dermatitis, and splenomegaly. Prolidase is undetectable in the white blood cells of the patient and near or less than the lower range of normal in each parent. The

Prolidase deficiency associated with pathologic myopia.

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Deficiency of prolidase, a key enzyme in proline metabolism, is extremely rare and is usually associated with skin lesions, recurrent infections, characteristic facies, mental retardation, and splenomegaly. These clinical features are largely due to inhibition of normal recycling of proline, which

Whole exome sequencing identified a novel mutation (p.Ala1884Pro) of β-spectrin in a Chinese family with hereditary spherocytosis.

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Hereditary spherocytosis (HS) is an inherited disorder of erythrocyte. The typical feature of HS is the presence of spherical-shaped erythrocytes on the peripheral blood smear. According to previous studies, more than five candidate genes, such as ANK1, SPTB, SPTA1, SLC4A1 and EPB42

Prolidase deficiency: a multisystemic hereditary disorder.

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Prolidase deficiency is a rare hereditary disorder with a wide spectrum of clinical manifestations including skin ulcers, eczematous eruptions, characteristic facies, mental retardation, splenomegaly, and susceptibility to infections. We report two new cases of prolidase deficiency. Our patients had

Microbiota and caspase-1/caspase-8 regulate IL-1β-mediated bone disease.

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A leucine-to-proline missense mutation at residue 98 in the proline-serine-threonine phosphatase interacting protein 2 (Pstpip2) gene leads to autoinflammatory disease that is characterized by splenomegaly, necrosis, and spontaneous development of osteomyelitis in mice (Pstpip2cmo). Disease

Clinical Genetics of Prolidase Deficiency: An Updated Review

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Prolidase is a ubiquitous enzyme that plays a major role in the metabolism of proline-rich proteins. Prolidase deficiency is a rare autosomal recessive inborn metabolic and multisystemic disease, characterized by a protean association of symptoms, namely intellectual disability, recurrent

Dipeptidyl peptidase IV inhibition for the treatment of type 2 diabetes: potential importance of selectivity over dipeptidyl peptidases 8 and 9.

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Dipeptidyl peptidase (DPP)-IV inhibitors are a new approach to the treatment of type 2 diabetes. DPP-IV is a member of a family of serine peptidases that includes quiescent cell proline dipeptidase (QPP), DPP8, and DPP9; DPP-IV is a key regulator of incretin hormones, but the functions of other

Prolidase deficiency with hyperimmunoglobulin E: a case report.

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Prolidase deficiency is a rare, inherited disorder characterized by ulceration of the skin, mental retardation, and massive urinary excretion of imidodipeptides. Most patients also have recurrent infections, an unusual facial appearance, and splenomegaly. We describe a girl presenting with chronic

A case of prolidase deficiency accompanying leg ulcers.

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Prolidase deficiency (PD) is a rare autosomal recessive disorder that has symptoms such as skin ulcers, characteristic facies, mental retardation, skeletal deformities, hematological anomalies, splenomegaly, and chronic infections. Deficiency of prolidase leads to the increased excretion of proline

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