Search Results - "APAK, M"

Fabrication of a Novel Optical Glucose Biosensor Using Copper(II) Neocuproine as a Chromogenic Oxidant and Glucose Dehydrogenase-Immobilized Magnetite Nanoparticles by Ayaz, Selen, Üzer, Ayşem, Dilgin, Yusuf, Apak, M. Reşat

“…This study describes a novel optical glucose biosensor based on a colorimetric reaction between reduced nicotinamide adenine dinucleotide (NADH) and a…”
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Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome by Uzumcu, A, Norgett, E E, Dindar, A, Uyguner, O, Nisli, K, Kayserili, H, Sahin, S E, Dupont, E, Severs, N J, Leigh, I M, Yuksel-Apak, M, Kelsell, D P, Wollnik, B

“…Background: Desmosomes are cellular junctions important for intercellular adhesion and anchoring the intermediate filament (IF) cytoskeleton to the cell…”
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Frequencies of gap- and tight-junction mutations in Turkish families with autosomal-recessive non-syndromic hearing loss by Uyguner, O, Emiroglu, M, Uzumcu, A, Hafiz, G, Ghanbari, A, Baserer, N, Yuksel-Apak, M, Wollnik, B

“…Mutations in genes encoding gap‐ and tight‐junction proteins have been shown to cause distinct forms of hearing loss. We have now determined the GJB2[connexin…”
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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency by VAN KUILENBURG, A. B. P, VREKEN, P, CHRISTENSEN, E, HOLOPAINEN, I, PULKKI, K, RIVA, D, BOTTEON, G, HOLME, E, TULINIUS, M, KLEIJER, W. J, BEEMER, F. A, DURAN, M, ABELING, N. G. G. M, NIEZEN-KONING, K. E, SMIT, G. P. A, JAKOBS, C, SMIT, L. M. E, MOOG, U, SPAAPEN, L. J. M, VAN GENNIP, A. H, BAKKER, H. D, MEINSMA, R, VAN LENTHE, H, DE ABREU, R. A, SMEITINK, J. A. M, KAYSERILI, H, APAK, M. Y

“…Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disease characterised by thymine-uraciluria in homozygous deficient patients and has…”
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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type by VAN MALDERGEM, L, YUKSEL-APAK, M, JAEKEN, J, MUNDLOS, S, DOBYNS, W. B, KAYSERILI, H, SEEMANOVA, E, GIURGEA, S, BASEL-VANAGAITE, L, LEAO-TELES, E, VIGNERON, J, FOULON, M, GREALLY, M

“…To delineate a new syndrome of brain dysgenesis and cutis laxa based on the description of 11 patients belonging to nine unrelated families recruited through…”
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The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family by Uyguner, O, Tukel, T, Baykal, C, Eris, H, Emiroglu, M, Hafiz, G, Ghanbari, A, Baserer, N, Yuksel-Apak, M, Wollnik, B

“…Dominant mutations in the GJB2 gene encoding connexin 26 (Cx26) can cause non‐syndromic hearing impairment alone or in association with palmoplantar…”
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A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3 by Uyguner, O, Kayserili, H, Li, Y, Karaman, B, Nürnberg, G, Hennies, HC, Becker, C, Nürnberg, P, Başaran, S, Apak, MY, Wollnik, B

“…Autosomal recessive inheritance of non‐syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients with non‐specific mental…”
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CADASIL syndrome in a large Turkish kindred caused by the R90C mutation in the Notch3 receptor by Utku, U., Celik, Y., Uyguner, O., Yüksel-Apak, M., Wollnik, B.

“…Mutations in the Notch3 gene are the cause of the autosomal dominant disorder CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and…”
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hKChIP2 is a functional modifier of hKv4.3 potassium channels: Cloning and expression of a short hKChIP2 splice variant by DECHER, Niels, UYGUNER, Oya, SCHERER, Constanze R, KARAMAN, Birsen, YÜKSEL-APAK, Memnune, BUSCH, Andreas E, STEINMEYER, Klaus, WOLLNIK, Bernd

“…The Ca(2+) independent transient outward K(+) current (I(to1)) in the heart is responsible for the initial phase of repolarization. The hKv4.3 K(+) channel…”
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A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter by Tukel, T, Uzumcu, A, Gezer, A, Kayserili, H, Yuksel-Apak, M, Uyguner, O, Gultekin, S H, Hennies, H-C, Nurnberg, P, Desnick, R J, Wollnik, B

“…Background: Congenital fibrosis of the extraocular muscles (CFEOM) is a heterogeneous group of disorders that may be associated with other anomalies. The…”
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The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome by Uyguner, Z.O., Siva, A., Kayserili, H., Saip, S., Altıntaş, A., Apak, M.Y., Albayram, S., Işık, N., Akman-Demir, G., Taşyürekli, M., Öz, B., Wollnik, B.

“…Mutations in Notch3 gene are responsible for the cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). It is a…”
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A Novel Semiquantitative Polymerase Chain Reaction/Enzyme Digestion-Based Method for Detection of Large Scale Deletions/Conversions of the CYP21 Gene and Mutation Screening in Turkish Families with 21-Hydroxylase Deficiency by Tukel, T., Uyguner, O., Wei, J. Q., Yuksel-Apak, M., Saka, N., Song, D. X., Kayserili, H., Bas, F., Gunoz, H., Wilson, R. C., New, M. I., Wollnik, B.

“…21-Hydroxylase deficiency is a recessively inherited disorder resulting from mutations in the CYP21 gene. The CYP21 gene is located along with the CYP21P…”
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A somatic origin of homologous Robertsonian translocations and isochromosomes by ROBINSON, W. P, BERNASCONI, F, SCHINZEL, A. A, BASARAN, S, YÜKSEL-APAK, M, NERI, G, SERVILLE, F, BALICEK, P, HALUZA, R, FARAH, L. M. S, LÜLECI, G

“…One t(14q14q), three t(15q15q), two t(21q21q), and two t(22q22q) nonmosaic, apparently balanced, de novo Robertsonian translocation cases were investigated…”
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Frequency of renal malformations in turner syndrome: analysis of 82 Turkish children by BILGE, Ilmay, KAYSERILI, Hulya, APAK, Memnune, EMRE, Sevinc, NAYIR, Ahmet, SIRIN, Aydan, TUKEL, Turgut, BAS, Firdevs, KILIC, Gulleyla, BASARAN, Seher, GUNOZ, Hulya

“…We evaluated the frequency of renal malformations in relation to nonmosaic 45,X (group A, 45 patients, 54.9%) and mosaic/structural abnormalities of X (group…”
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Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS) by Kayserili, Hülya, Cox, Timothy C, Cox, Liza L, Basaran, Seher, Kiliç, Gülleyla, Ballabio, Andrea, Yüksel-Apak, Memnune

“…[...]most of these markers were known to map within or immediately around the MLS critical region. 21 The results clearly and precisely showed the localisation…”
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A familial Xp+ chromosome detected during fetal karyotyping, which is associated with short stature in four generations of a Turkish family by Karaman, B., Wollnik, B., Ermiş, H., Yüksel-Apak, M., Başaran, S.

“…The short‐stature homeobox‐containing gene (SHOX) on chromosome Xp22.3 was recently identified as an important determinant of the stature phenotype. Deletions…”
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Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations by Uyguner, O., Jorge, E. Goicoechea, Cefle, A., Baykal, T., Kayserili, H., Cefle, K., Demirkol, M., Yuksel‐Apak, M., Córdoba, S. Rodríguez, Wollnik, B.

“…Alkaptonuria (AKU) is a rare metabolic disorder of phenylalanine catabolism that is inherited as an autosomal recessive trait. AKU is caused by…”
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Glycine to tryptophan substitution in type I collagen in a patient with OI type III: a unique collagen mutation by Nuytinck, Lieve, Tükel, Turgut, Kayserili, Hülya, Apak, Memnune Yüksel, De Paepe, Anne

“…We report a unique glycine substitution in type I collagen and highlight the clinical and biochemical consequences. The proband is a 9 year old Turkish boy…”
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Maternal uniparental disomy 22 has no impact on the phenotype by SCHINZEL, A. A, BASARAN, S, BERNASCONI, F, KARAMAN, B, YÜKSEL-APAK, M, ROBINSON, W. P

“…A 25-year-old normal healthy male was karyotyped because five of his wife's pregnancies terminated in spontaneous abortions at 6-14 wk of gestation…”
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Unusual molecular findings in autosomal recessive spinal muscular atrophy by Matthijs, G, Schollen, E, Legius, E, Devriendt, K, Goemans, N, Kayserili, H, Apäk, M Y, Cassiman, J J

“…All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN…”
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