A. Winterpacht

发表

Frequent Inactivation of Cysteine Dioxygenase Type 1 Contributes to Survival of Breast Cancer Cells and Resistance to Anthracyclines

Ludmila V. Danilova, J. Herman, K. Schuebel, 2013, Clinical Cancer Research.

PHF 13 is a molecular reader and transcriptional co-regulator of H 3 K 4 me 2 / 3

Chao Xu, C. Bian, J. Min, 2016 .

SPOC1 (PHF13) is required for spermatogonial stem cell differentiation and sustained spermatogenesis

H. Scherthan, Claudia Nelkenbrecher, A. Winterpacht, 2011, Development.

Systematic screening of an arrayed cDNA library by PCR.

D. Housman, A. Winterpacht, A. Buckler, 1995, Proceedings of the National Academy of Sciences of the United States of America.

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes.

A. Winterpacht, B. Horsthemke, B. Zabel, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype

K. Ickstadt, T. Reckwitz, M. Falkenstein, 2011, Pharmacogenetics and genomics.

A novel myosin heavy chain gene in human chromosome 19q13.3.

R. Barrantes, A. Winterpacht, K. Huehne, 2003, Gene.

Mtr1, a novel biallelically expressed gene in the center of the mouse distal chromosome 7 imprinting cluster, is a member of the Trp gene family.

A. Winterpacht, D. Prawitt, B. Zabel, 2000, Genomics.

Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail patella syndrome

A. Winterpacht, Brendan H. Lee, Guang Zhou, 2001, Nature Genetics.

Partial deletion of the critical 1.5 Mb interval in Williams-Beuren syndrome

A. Winterpacht, R. Heller, A. Rauch, 2003, Journal of medical genetics.

Lmx1b expression during joint and tendon formation: localization and evaluation of potential downstream targets.

Randy L. Johnson, A. Winterpacht, Brendan H. Lee, 2004, Gene expression patterns : GEP.

Manifestation of epilepsy in a patient with EED‐related overgrowth (Cohen–Gibson syndrome)

A. Ekici, A. Winterpacht, F. Kerling, 2021, American journal of medical genetics. Part A.

Non-radioactive multiplex-SSCP analysis: detection of a new type II procollagen gene (COL2A1) mutation

A. Winterpacht, B. Zabel, U. Schwarze, 1995, Human Genetics.

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia.

A. Winterpacht, H. Segerer, B. Zabel, 2000, Physiological genomics.

MATN3 (matrilin-3) sequence variation (pT303M) is a risk factor for osteoarthritis of the CMC1 joint of the hand, but not for knee osteoarthritis

A. Winterpacht, B. Swoboda, O. Pullig, 2006, Annals of the rheumatic diseases.

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia.

A. Winterpacht, B. Zabel, A. Superti-Furga, 1996, American journal of medical genetics.

New point mutation (R243W) in the hormone binding domain of the c‐erbA β1 gene in a family with generalized resistance to thyroid hormone

A. Winterpacht, B. Zabel, S. Wirth, 1996, Human mutation.

Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome

A. Winterpacht, Brendan H. Lee, Lei Zhou, 1998, Mammalian Genome.

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

S. Mundlos, A. Winterpacht, B. Zabel, 1993, Nature Genetics.

Ten novel mutations found in aniridia

B. Lorenz, A. Winterpacht, M. Wolf, 1998, Human mutation.

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

L. Ala‐Kokko, A. Winterpacht, D. Prockop, 1998, American journal of medical genetics.

Novel WT1 mutation, 11p LOH, and t(7;12) (p22;q22) chromosomal translocation identified in a Wilms Tumor Case

A. Winterpacht, B. Zabel, D. Harms, 1998, Genes, chromosomes & cancer.

SPOC1 (PHF13) is required for spermatogonial stem cell differentiation and sustained spermatogenesis

H. Scherthan, Claudia Nelkenbrecher, A. Winterpacht, 2011, Journal of Cell Science.

Duchenne muscular dystrophy and malignant hyperthermia: a genetic study of the ryanodine receptor in 47 patients.

A. Winterpacht, T. Münster, H. Schmitt, 2014, European journal of anaesthesiology.

Human fibroblast growth factor receptor 3 gene (FGFR3): genomic sequence and primer set information for gene analysis

A. Winterpacht, B. Zabel, K. Hilbert, 1997, Human Genetics.

Loss of heterozygosity studies and deletion mapping identify two putative chromosome 14q tumor suppressor loci in renal oncocytomas.

A. Winterpacht, C. Huber, B. Zabel, 1997, Cancer research.

LMX1B transactivation and expression in nail-patella syndrome.

A. Winterpacht, Brendan H. Lee, B. Lee, 2000, Human molecular genetics.

The type II collagenopathies: A spectrum of chondrodysplasias

A. Winterpacht, B. Zabel, J. Spranger, 1994, European Journal of Pediatrics.

Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: Parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia

S. Mundlos, A. Winterpacht, B. Zabel, 2005, Pediatric Radiology.

Clinical variability of Stickler syndrome with aCOL2A1 haploinsufficiency mutation: implications for genetic counselling

A. Winterpacht, B. Zabel, A. Schinzel, 2000, Journal of medical genetics.

Autosomal dominant spondylarthropathy due to a type II procollagen gene(COL2A1) point mutation

S. Mundlos, A. Winterpacht, B. Zabel, 1994, Human mutation.

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

A. Baldini, Randy L. Johnson, A. Winterpacht, 1998, Nature Genetics.

Expression profiling of human fetal growth plate cartilage by EST sequencing.

A. Winterpacht, Brendan H. Lee, T. Hankeln, 2005, Matrix biology : journal of the International Society for Matrix Biology.

Nuclear localization of the protein encoded by the Wilms' tumor gene WT1 in embryonic and adult tissues.

S. Mundlos, J. Pelletier, A. Winterpacht, 1993, Development.

Single-cell RNA sequencing of adult mouse testes

A. Ekici, A. Winterpacht, S. Lukassen, 2018, Scientific Data.

Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing

A. Ekici, A. Winterpacht, S. Lukassen, 2018, Scientific Reports.

LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.

Richard O'Brien, A. Winterpacht, S. Endele, 2004, Genomics.

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

I. Kaitila, A. Winterpacht, Brendan H. Lee, 1998, American journal of human genetics.

Primary Erythromelalgia in a 12-Year-Old Boy: Positive Response to Sodium Channel Blockers Despite Negative SCN9A Mutations

A. Winterpacht, O. Staszewski, M. Hufnagel, 2011, Klinische Pädiatrie.

C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development

Claudia Nelkenbrecher, A. Winterpacht, S. Endele, 2011, neurogenetics.

LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.

A. Winterpacht, M. Fuhry, S. Endele, 1999, Genomics.

PAX8, a human paired box gene: isolation and expression in developing thyroid, kidney and Wilms' tumors.

S. Mundlos, P. Gruss, A. Winterpacht, 1992, Development.

Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia.

S. Mundlos, A. Winterpacht, B. Zabel, 1994, Human Molecular Genetics.

Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect.

A. Winterpacht, B. Zabel, J. Spranger, 1997, American journal of medical genetics.

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia.

A. Winterpacht, B. Zabel, A. Superti-Furga, 1996, Journal of medical genetics.

Kniest Dysplasia: Clinical, Pathologic, and Molecular Findings in a Severely Affected Patient–And Review of the Literature

A. Winterpacht, M. Spycher, B. Zabel, 1998 .

The deletion of six amino acids at the C-terminus of the ocl (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest

A. Winterpacht, B. Zabel, A. Superti-Furga, 2022 .

Pain relief in a neuropathy patient by lacosamide: Proof of principle of clinical translation from patient-specific iPS cell-derived nociceptors

J. Schüttler, A. Winterpacht, B. Winner, 2018, EBioMedicine.

Summary PAX 8 , a human paired box gene : isolation and expression in developing thyroid , kidney and Wilms ’ tumors

S. Mundlos, P. Gruss, A. Winterpacht, 1999 .

Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain.

N. Nowak, D. Housman, T. Shows, 1998, Genomics.

Functional characterization of human nucleosome assembly protein-2 (NAP1L4) suggests a role as a histone chaperone.

N. Nowak, D. Housman, T. Shows, 1997, Genomics.

LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.

L. Scorrano, A. Winterpacht, E. Trevisson, 2007, Human molecular genetics.

Characterization of germ cell differentiation in the male mouse through single-cell RNA sequencing

A. Ekici, A. Winterpacht, S. Lukassen, 2018, Scientific Reports.

Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7

C. Amid, A. Winterpacht, B. Zabel, 2001, Cytogenetic and Genome Research.

Animal Cytogenetics and Comparative Mapping

A. Winterpacht, H. Hauser, D. Prawitt, 2001 .

Inherited Pain

A. Winterpacht, A. Kist, A. Lampert, 2013, The Journal of Biological Chemistry.

Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression.

J. Pelletier, A. Winterpacht, D. Prawitt, 2000, Human molecular genetics.

Cloning and characterization of a novel gene (TM7SF1) encoding a putative seven-pass transmembrane protein that is upregulated during kidney development.

A. Winterpacht, B. Zabel, C. Spangenberg, 1998, Genomics.

PHF13 is a molecular reader and transcriptional co-regulator of H3K4me2/3

Chao Xu, C. Bian, J. Min, 2016, eLife.

Partial deletion of 4p and 4q in a fetus with ring chromosome 4: phenotype and molecular mapping of the breakpoints

A. Winterpacht, R. Heller, S. Endele, 2002, Journal of medical genetics.

Molecular cloning and chromosomal assignment of the human homologue of the rat cGMP-inhibited phosphodiesterase 1 (PDE3A)--a gene involved in fat metabolism located at 11p 15.1.

A. Winterpacht, B. Zabel, R. Löbbert, 1996, Genomics.

Developmental expression of splicing variants of fibroblast growth factor receptor 3 (FGFR3) in mouse.

A. Winterpacht, M. Schalling, B. Zabel, 1996, The International journal of developmental biology.

Assignment of the human diacylglycerol kinase 4 (DAGK4) gene to chromosome 4p16.3.

A. Winterpacht, S. Endele, B. Zabel, 1996, Genomics.

Biomarkers for detection and prognosis of breast cancer identified by a functional hypermethylome screen

L. Cope, J. Herman, K. Schuebel, 2012, Epigenetics.

Ehlers-Danlos syndrome type VII: phenotype and genotype

S. Mundlos, A. Winterpacht, B. Zabel, 2004, Archives of Dermatological Research.

Balanced translocation in a patient with craniosynostosis disrupts the SOX6 gene and an evolutionarily conserved non-transcribed region

A. Winterpacht, R. Heller, V. Kalscheuer, 2005, Journal of Medical Genetics.

Instability of Tandem Repetitive DNA in “Natural” and Transgenic Organisms

A. Winterpacht, E. Schmidt, T. Hankeln, 1996 .

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

A. Poustka, A. Winterpacht, S. Saitoh, 1996, Nature Genetics.

Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, R. Gershoni-baruch, G. Hülskamp, 2005, Nature Genetics.

SPOC1, a novel PHD‐finger protein: Association with residual disease and survival in ovarian cancer

D. Hasenclever, A. Winterpacht, J. Hengstler, 2005, International journal of cancer.

The Centromeric/Nucleolar Chromatin Protein ZFP-37 May Function to Specify Neuronal Nuclear Domains*

N. Galjart, F. Grosveld, C. D. De Zeeuw, 1998, The Journal of Biological Chemistry.

Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

A. Winterpacht, S. Leis, K. Huehne, 2010, Neuroscience Letters.

SPOC1: a novel PHD-containing protein modulating chromatin structure and mitotic chromosome condensation

E. Kremmer, A. Winterpacht, H. Will, 2009, Journal of Cell Science.

Transient receptor potential ankyrin 1 promoter methylation and peripheral pain sensitivity in Crohn’s disease

H. Frieling, A. Winterpacht, T. Hillemacher, 2019, Clinical Epigenetics.

Phenotypic variability in patients with generalised resistance to thyroid hormone.

A. Winterpacht, B. Zabel, S. Wirth, 1995, Journal of medical genetics.

Thyroid function tests in three affected members of a family with generalised resistance to thyroid hormone

A. Winterpacht, B. Zabel, S. Wirth, 2022 .

Rs710521[A] on chromosome 3q28 close to TP63 is associated with increased urinary bladder cancer risk

K. Ickstadt, T. Reckwitz, M. Falkenstein, 2010, Archives of Toxicology.

Renal phenotype in heterozygous Lmx1b knockout mice (Lmx1b+/−) after unilateral nephrectomy

Randy L. Johnson, A. Winterpacht, R. Witzgall, 2007, Transgenic Research.

A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts.

A. Winterpacht, H. Sticht, M. Zenker, 2004, American journal of human genetics.

Selenoprotein M is expressed during bone development

Jennifer C. Fuchs, A. Winterpacht, M. Bösl, 2013, EXCLI journal.

Original article: SELENOPROTEIN M IS EXPRESSED DURING BONE DEVELOPMENT

Jennifer C. Fuchs, A. Winterpacht, M. Bösl, 2013 .

Ucma--A novel secreted factor represents a highly specific marker for distal chondrocytes.

A. Winterpacht, J. Luther, M. Stock, 2008, Matrix biology : journal of the International Society for Matrix Biology.

Use of the polymerase chain reaction to demonstrate hepatitis B virus DNA in serum of children with chronic hepatitis B.

A. Winterpacht, S. Wirth, U. Möllers, 1992, The Journal of pediatrics.

Grebe Dysplasia And The Spectrum Of CDMP1 Mutations

A. Winterpacht, B. Zabel, J. Spranger, 2003, Pediatric pathology & molecular medicine.

Association of genetic and psychological factors with persistent pain after cosmetic thoracic surgery

S. Lautenbacher, J. Lötsch, R. Sittl, 2015, Journal of pain research.

High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity

A. Winterpacht, S. Leis, K. Huehne, 2009, European journal of pain.

One Gene, Two Transcripts: Isolation of an Alternative Transcript Encoding for the Autoantigen La/ss-b from a Cdna Library of a Patient with Primary Sjiigrens' Syndrome

A. Winterpacht, M. Schwemmle, H. Tröster, 1994 .

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.

T. Rausch, D. Seelow, J. Korbel, 2013, Matrix biology : journal of the International Society for Matrix Biology.

Ucmaa (Grp-2) is required for zebrafish skeletal development. Evidence for a functional role of its glutamate γ-carboxylation.

A. Winterpacht, M. Paulsson, R. Wagener, 2011, Matrix biology : journal of the International Society for Matrix Biology.

Isolation, characterization, and mapping of a zinc finger gene, ZFP95, containing both a SCAN box and an alternatively spliced KRAB A domain.

A. Winterpacht, B. Zabel, S. Dreyer, 1999, Genomics.

Functional null mutations in the gonosomal homologue gene TBL1Y are associated with non-syndromic coarctation of the aorta.

A. Winterpacht, H. Sticht, S. Dittrich, 2012, Current molecular medicine.

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

S. Schuffenhauer, A. Winterpacht, J. Murken, 1997, Journal of medical genetics.

Disruption of ST5 is associated with mental retardation and multiple congenital anomalies

M. Vikkula, A. Winterpacht, M. Fisher, 2009, Journal of Medical Genetics.

Disruption of ST 5 is associated with mental retardation and multiple congenital anomalies

M. Vikkula, A. Winterpacht, M. Fisher, 2010 .

Chromatin-Remodeling Factor SPOC1 Acts as a Cellular Restriction Factor against Human Cytomegalovirus by Repressing the Major Immediate Early Promoter

A. Winterpacht, L. Čičin-Šain, T. Stamminger, 2018, Journal of Virology.

Human CLAPS2 encoding AP17, a small chain of the clathrin-associated protein complex: cDNA cloning and chromosomal assignment to 19q13.2-->q13.3.

A. Winterpacht, M. Fuhry, S. Endele, 1996, Cytogenetics and Cell Genetics.

Corrigendum: Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)

M. Rauh, A. Ekici, R. Gershoni-baruch, 2006, Nature Genetics.

Two different PAX3 gene mutations causing Waardenburg syndrome type I.

A. Winterpacht, B. Zabel, K. Hilbert, 1996, Molecular and cellular probes.

Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.

S. Schuffenhauer, P. Lichtner, A. Winterpacht, 1997, Journal of medical genetics.

Single-cell RNA sequencing of adult mouse testes

A. Ekici, A. Winterpacht, S. Lukassen, 2018, Scientific Data.

Animal Cytogenetics and Comparative Mapping

C. Amid, A. Winterpacht, B. Zabel, 2001 .

High post surgical opioid requirements in Crohn's disease are not due to a general change in pain sensitivity

A. Winterpacht, S. Leis, K. Huehne, 2009, European journal of pain.

Chromatin-Remodeling Factor SPOC1 Acts as a Cellular Restriction Factor against Human Cytomegalovirus by Repressing the Major Immediate Early Promoter

A. Winterpacht, L. Čičin-Šain, T. Stamminger, 2018, Journal of Virology.

SPOC1 (PHF13) is required for spermatogonial stem cell differentiation and sustained spermatogenesis

H. Scherthan, Claudia Nelkenbrecher, A. Winterpacht, 2011, Journal of Cell Science.

SPOC1: a novel PHD-containing protein modulating chromatin structure and mitotic chromosome condensation

E. Kremmer, A. Winterpacht, H. Will, 2009, Journal of Cell Science.

One gene, two transcripts: isolation of an alternative transcript encoding for the autoantigen La/SS-B from a cDNA library of a patient with primary Sjogrens' syndrome

A. Winterpacht, Bernhard Zabel, Martin Schwemmle, 1994, The Journal of experimental medicine.