Search Results - "Fietz, Michael J"

Tay Sachs disease in Australia: reduced disease incidence despite stable carrier frequency in Australian Jews by Lew, Raelia M, Proos, Anne L, Burnett, Leslie, Delatycki, Martin, Bankier, Agnes, Fietz, Michael J

“…Objectives: To evaluate the outcomes of preconception screening of Jewish Australians for Tay Sachs disease (TSD) carrier status on Jewish TSD‐affected births…”
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Newborn screening for lysosomal storage disorders by Meikle, Peter J., Grasby, Dallas J., Dean, Caroline J., Lang, Debbie L., Bockmann, Michelle, Whittle, Alison M., Fietz, Michael J., Simonsen, Henrik, Fuller, Maria, Brooks, Douglas A., Hopwood, John J.

“…Lysosomal storage disorders (LSD) are chronic progressive diseases that have a devastating impact on the patient and family. Most patients are clinically…”
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Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation by Sadick, Victoria J., BAppSc(Hons), Fietz, Michael J., PhD, Tchan, Michel C., MBBS, PhD, Kovoor, Pramesh, MBBS, PhD, Thomas, Liza, MBBS, PhD, Sadick, Norman, MBBS, PhD

“…A 52 year-old male with Klinefelter syndrome presented with chest tightness and rapid atrial fibrillation with hypotension. His echocardiogram demonstrated…”
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Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene by Ebberink, Merel S, Csanyi, Barbara, Chong, Wui K, Denis, Simone, Sharp, Peter, Mooijer, Petra A W, Dekker, Conny J M, Spooner, Claire, Ngu, Lock H, De Sousa, Carlos, Wanders, Ronald J A, Fietz, Michael J, Clayton, Peter T, Waterham, Hans R, Ferdinandusse, Sacha

“…Zellweger syndrome spectrum disorders are caused by mutations in any of at least 12 different PEX genes. This includes PEX16, which encodes an integral…”
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Screening patients referred to a metabolic clinic for lysosomal storage disorders by Fuller, Maria, Tucker, Justin N, Lang, Debbie L, Dean, Caroline J, Fietz, Michael J, Meikle, Peter J, Hopwood, John J

“…Lysosomal protein profiling is being developed as a high throughput method to screen populations for lysosomal storage disorders (LSD). 1415 blood spots from…”
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Diagnosis of lysosomal storage disorders: current techniques and future directions by Meikle, Peter J, Fietz, Michael J, Hopwood, John J

“…Lysosomal storage disorders represent a group of over 45 distinct genetic diseases. The broad spectrum of clinical presentation of this group of disorders has…”
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Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile by Kohan, Romina, Muller, Vivien J, Fietz, Michael J, Cismondi, Adriana I, Oller Ramírez, Ana M, Halac, Inés Noher

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Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant‐negative mechanism by Hime, Gary R., Lada, Hania, Fietz, Michael J., Gillies, Susan, Passmore, Abraham, Wicking, Carol, Wainwright, Brandon J.

“…Mutations in the human homolog of the patched gene are associated with the developmental (and cancer predisposition) condition Nevoid Basal Cell Carcinoma…”
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Correlation among Genotype, Phenotype, and Biochemical Markers in Gaucher Disease: Implications for the Prediction of Disease Severity by Whitfield, Phillip D., Nelson, Paul, Sharp, Peter C., Bindloss, Colleen A., Dean, Caroline, Ravenscroft, Elaine M., Fong, Beverley A., Fietz, Michael J., Hopwood, John J., Meikle, Peter J.

“…Gaucher disease is a lysosomal storage disorder characterized by a deficiency of the enzyme acid β-glucosidase. The clinical manifestations of Gaucher disease…”
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Analysis of the sheep trichohyalin gene: potential structural and calcium-binding roles of trichohyalin the the hair follicle by Fietz, M.J. (University of Oxford, Oxford, UK), McLaughlan, C.J, Campbell, M.T, Rogers, G.E

“…Trichohyalin is a structural protein that is produced and retained in the cells of the inner root sheath and medulla of the hair follicle. The gene for sheep…”
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Mapping of the Trichohyalin Gene: Co-Localization with the Profilaggrin, Involucrin, and Loricrin Genes by Fietz, Michael J, Rogers, George E, Eyre, Helen J, Baker, Elizabeth, Callen, David F, Sutherland, Grant R

“…The chromosomal location of the gene encoding the human hair follicle protein trichohyalin has been determined by in situ hybridization. The human gene has…”
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The hedgehog gene family in Drosophila and vertebrate development by Fietz, M J, Concordet, J P, Barbosa, R, Johnson, R, Krauss, S, McMahon, A P, Tabin, C, Ingham, P W

“…The segment polarity gene hedgehog plays a central role in cell patterning during embryonic and post-embryonic development of the dipteran, Drosophila…”
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Trichohyalin and matrix proteins by Rogers, G E, Fietz, M J, Fratini, A

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The cDNA-Deduced Amino Acid Sequence for Trichohyalin, A Differentiation Marker in the Hair Follicle, Contains a 23 Amino Acid Repeat by Fietz, Michael J., Presland, Richard B., Rogers, George E.

“…Trichohyalin is a highly expressed protein within the inner root sheath of hair follicles and is similar, or identical, to a protein present in the hair…”
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Clustered Arrangement of Keratin Intermediate Filament Genes by Powell, Barry C., Cam, Graham R., Fietz, Michael J., Rogers, George E.

“…We report here that component members of the keratin intermediate filament (IF) type I and type II gene families of sheep are closely linked but apparently the…”
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