X. Schneider-Yin

发表

Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP).

S. Ducamp, X. Schneider-Yin, F. D. de Rooij, 2013, Human molecular genetics.

Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study

X. Schneider-Yin, E. Minder, A. Minder, 2021, Therapeutic advances in rare disease.

A "null allele" mutation is responsible for erythropoietic protoporphyria in an Israeli patient who underwent liver transplantation: relationships among biochemical, clinical, and genetic parameters.

X. Schneider-Yin, E. Minder, N. Schoenfeld, 2003, Blood cells, molecules & diseases.

Iron availability modulates aberrant splicing of ferrochelatase through the iron- and 2-oxoglutarate dependent dioxygenase Jmjd6 and U2AF(65.).

X. Schneider-Yin, E. Minder, Jasmin Barman-Aksözen, 2013, Blood cells, molecules & diseases.

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

P. Bauer, C. Schroeder, X. Schneider-Yin, 2015, Journal of hepatology.

Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria.

X. Schneider-Yin, E. Minder, P. Martásek, 2008, Molecular genetics and metabolism.

Exacerbation of erythropoietic protoporphyria by hyperthyroidism

X. Schneider-Yin, E. Minder, A. Haldemann, 2010, Journal of Inherited Metabolic Disease.

Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.

Jonathan Hall, D. Schümperli, X. Schneider-Yin, 2019, Molecular genetics and metabolism.

Lichen sclerosus et atrophicus-like skin lesions in a patient carrying a novel hydroxymethylbilane synthase mutation.

L. French, V. Saudek, X. Schneider-Yin, 2010, Blood cells, molecules & diseases.

Pharmacokinetics and Pharmacodynamics of Afamelanotide and its Clinical Use in Treating Dermatologic Disorders

X. Schneider-Yin, E. Minder, Jasmin Barman-Aksoezen, 2017, Clinical Pharmacokinetics.

Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice

Vijay B. Bansode, D. Schümperli, X. Schneider-Yin, 2017, Disease Models & Mechanisms.

Variations in the length of poly-C and poly-T tracts in intron 3 of the human ferrochelatase gene.

X. Schneider-Yin, E. Minder, N. Schoenfeld, 2009, Cellular and molecular biology.

Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients

X. Schneider-Yin, J. Deybach, E. Minder, 2002, Human Heredity.

Mutation hotspots in the human porphobilinogen deaminase gene: Recurrent mutations G111R and R173Q occurring at CpG motifs

X. Schneider-Yin, E. Minder, M. Hergersberg, 2004, Journal of Inherited Metabolic Disease.

Haplotype analysis in determination of the heredity of erythropoietic protoporphyria among Swiss families.

X. Schneider-Yin, J. Deybach, E. Minder, 2001, The Journal of investigative dermatology.

Congenital erythropoietic porphyria: a single‐observer clinical study of 29 cases

A. Finlay, C. Ged, X. Schneider-Yin, 2012, The British journal of dermatology.

Age-Dependent Reference Values of Urinary Porphyrins in Children

X. Schneider-Yin, E. Minder, 1996, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.

Long‐term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria

E. Marchesini, X. Schneider-Yin, E. Minder, 2015, The British journal of dermatology.

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias

X. Schneider-Yin, E. Minder, M. Beer, 2019, Scandinavian journal of clinical and laboratory investigation.

Hypericin and 5-aminolevulinic acid-induced protoporphyrin IX induce enhanced phototoxicity in human endometrial cancer cells with non-coherent white light.

M. Roos, X. Schneider-Yin, E. Minder, 2009, Photodiagnosis and photodynamic therapy.

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

A. Finlay, C. Ged, X. Schneider-Yin, 2012, The British journal of dermatology.

Afamelanotide (CUV1647) in dermal phototoxicity of erythropoietic protoporphyria

X. Schneider-Yin, E. Minder, 2015, Expert review of clinical pharmacology.

Porphyria in Switzerland, 15 years experience.

X. Schneider-Yin, E. Minder, Juergen Harms, 2009, Swiss medical weekly.

Multi-laboratory proficiency testing of clinical cancer genomic profiling by next-generation sequencing.

Karl Kashofer, Qing Zhong, Ulrich Wagner, 2018, Pathology, research and practice.

Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

B. Schäfer, X. Schneider-Yin, J. Deybach, 1998, American journal of human genetics.

Disturbed iron metabolism in erythropoietic protoporphyria and association of GDF15 and gender with disease severity

D. Girelli, X. Schneider-Yin, E. Minder, 2017, Journal of Inherited Metabolic Disease.

Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria.

Jonathan Hall, M. Ruepp, D. Schümperli, 2021, Cell chemical biology.

In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability.

X. Schneider-Yin, E. Minder, G. Biolcati, 2015, Blood cells, molecules & diseases.

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

X. Schneider-Yin, J. Deybach, L. Gouya, 2000, European Journal of Pediatrics.

Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria

Jonathan Hall, D. Schümperli, X. Schneider-Yin, 2020, bioRxiv.

Existing therapies and therapeutic targets for erythropoietic protoporphyria

X. Schneider-Yin, E. Minder, Jasmin Barman-Aksoezen, 2016 .

A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.

X. Schneider-Yin, J. Deybach, L. Gouya, 2002, Cellular and molecular biology.

Human ferrochelatase: a novel mutation in patients with erythropoietic protoporphyria and an isoform caused by alternative splicing

B. Schäfer, X. Schneider-Yin, E. Minder, 1995, Human Genetics.

Molecular defects in erythropoietic protoporphyria with terminal liver failure

B. Schäfer, G. Burg, X. Schneider-Yin, 1994, Human Genetics.

Recessive inheritance of erythropoietic protoporphyria with liver failure.

B. Schäfer, X. Schneider-Yin, E. Minder, 1994, Lancet.

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts.

R. Desnick, X. Schneider-Yin, E. Minder, 2010, Blood.

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

X. Schneider-Yin, H. Puy, N. Schoenfeld, 2010, Journal of the European Academy of Dermatology and Venereology : JEADV.

Recessive inheritance of erythropoietic protoporphyria with liver failure

X. Schneider-Yin, E. Minder, G. Goerz, 1994, The Lancet.

Lack of effect of oral charcoal in congenital erythropoietic porphyria.

X. Schneider-Yin, E. Minder, F. Möll, 1994, The New England journal of medicine.

Influence of Age and Gender on the Clinical Expression of Acute Intermittent Porphyria Based on Molecular Study of Porphobilinogen Deaminase Gene Among Swiss Patients

X. Schneider-Yin, J. Deybach, E. Minder, 2001, Molecular medicine.

Iron in erythropoietic protoporphyrias: Dr. Jekyll or Mr. Hyde?

X. Schneider-Yin, E. Minder, Jasmin Barman-Aksoezen, 2017 .

New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.

X. Schneider-Yin, J. Deybach, L. Gouya, 2001, Clinical chemistry.

Mutations in the ferrochelatase gene of four Spanish patients with erythropoietic protoporphyria.

X. Schneider-Yin, J. Deybach, L. Gouya, 1998, The Journal of investigative dermatology.

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria

M. Dorsey, X. Schneider-Yin, J. Deybach, 2000 .

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

M. Dorsey, X. Schneider-Yin, J. Deybach, 2000, Blood.

A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.

J. Steurer, X. Schneider-Yin, E. Minder, 2009, Cellular and molecular biology.

Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide – a three years observational study

X. Schneider-Yin, A. Minder, J. Barman-Aksözen, 2020, Orphanet Journal of Rare Diseases.

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

X. Schneider-Yin, E. Minder, N. Schoenfeld, 2008, Journal of Inherited Metabolic Disease.

Heterogeneity of mutations in the ferrochelatase gene in Italian patients with erythropoietic protoporphyria.

X. Schneider-Yin, E. Minder, G. Biolcati, 2007, Molecular genetics and metabolism.

Human Hereditary Porphyrias

X. Schneider-Yin, E. Minder, 2008 .

The Vampire Study: Significant elevation of faecal calprotectin in healthy volunteers after 300 ml blood ingestion mimicking upper gastrointestinal bleeding

G. Rogler, S. Vavricka, X. Schneider-Yin, 2018, United European gastroenterology journal.

Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal

X. Schneider-Yin, E. Minder, C. Minder, 2010, Health and quality of life outcomes.

Research outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal

X. Schneider-Yin, E. Minder, C. Minder, 2010 .

Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria.

V. Saudek, X. Schneider-Yin, E. Minder, 2009, Blood cells, molecules & diseases.

Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria

X. Schneider-Yin, E. Minder, A. Minder, 2023, Life.

Hepatocellular carcinoma in variegate porphyria: a serious complication.

X. Schneider-Yin, P. Went, J. Frank, 2010, Acta dermato-venereologica.

Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

X. Schneider-Yin, J. Deybach, E. Minder, 2000, Human Heredity.

Swiss patients with variegate porphyria have unique mutations.

X. Schneider-Yin, E. Minder, 2006, Swiss medical weekly.

Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.

X. Schneider-Yin, E. Minder, J. Frank, 2009, Cellular and molecular biology.

Simultaneous manifestation of variegate porphyria in monozygotic twins

D. Hohl, X. Schneider-Yin, E. Minder, 2008, The British journal of dermatology.

Porphyrins, Porphobilinogen, and δ-Aminolevulinic Acid

X. Schneider-Yin, E. Minder, 2008 .

Long‐term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria

E. Marchesini, X. Schneider-Yin, E. Minder, 2015, The British journal of dermatology.

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.

S. Friedman, M. Dorsey, X. Schneider-Yin, 2000, Blood.

Rapid Molecular Diagnosis of Erythropoietic Protoporphyria among Swiss Patients

B. Schäfer, X. Schneider-Yin, J. Deybach, 1998, Clinical chemistry and laboratory medicine.