The Experts below are selected from a list of 51 Experts worldwide ranked by ideXlab platform
Ruedi Fries - One of the best experts on this subject based on the ideXlab platform.
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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle.
BMC genetics, 2016Co-Authors: Hubert Pausch, Simon Ammermueller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi FriesAbstract:The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a Congenital Skin Disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two Diseased and 41 healthy animals at 41,436 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the Skin Disease to the distal end of bovine chromosome 22 (P = 8.0 × 10−14). The analysis of whole-genome re-sequencing data of one Diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (rs876174537, p.Arg1588X) in the COL7A1 gene that segregates with the Disease. The same mutation was previously detected in three calves with dystrophic epidermolysis bullosa from the Rotes Hohenvieh cattle breed. We show that Diseased animals from Vorderwald and Rotes Hohenvieh cattle are identical by descent for an 8.72 Mb haplotype encompassing rs876174537 indicating they inherited the deleterious allele from a recent common ancestor. Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Hohenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carrier animals. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful Skin Disease.
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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
BMC Genetics, 2016Co-Authors: Hubert Pausch, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Simon Ammermüller, Ruedi FriesAbstract:Background The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a Congenital Skin Disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. Results Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two Diseased and 41 healthy animals at 41,436 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the Skin Disease to the distal end of bovine chromosome 22 ( P = 8.0 × 10^−14). The analysis of whole-genome re-sequencing data of one Diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (rs876174537, p.Arg1588X) in the COL7A1 gene that segregates with the Disease. The same mutation was previously detected in three calves with dystrophic epidermolysis bullosa from the Rotes Höhenvieh cattle breed. We show that Diseased animals from Vorderwald and Rotes Höhenvieh cattle are identical by descent for an 8.72 Mb haplotype encompassing rs876174537 indicating they inherited the deleterious allele from a recent common ancestor. Conclusions Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Höhenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carrier animals. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful Skin Disease.
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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
2016Co-Authors: Hubert Pausch, Simon Ammermueller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi FriesAbstract:Background: The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a Congenital Skin Disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. Results: Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two Diseased and 41 healthy animals at 40,792 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the Skin Disease to the distal end of bovine chromosome 22 (P=8.0x10-14). The analysis of whole-genome re-sequencing data of 1686 animals including one Diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (ss1995911272, p.Arg1588X) in the COL7A1 gene that segregates with the Disease. The same mutation was previously detected in three calves with dystrophic epidermolysis bullosa from the Rotes Hoehenvieh cattle breed. We show that Diseased animals from Vorderwald and Rotes Hoehenvieh cattle are identical by descent for an 8.72 Mb haplotype encompassing ss1995911272 indicating they inherited the deleterious allele from a recent common ancestor. Conclusions: Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Hoehenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that recessive deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carriers of the defective allele. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful Skin Disease.
Suzanne G. M. A. Pasmans - One of the best experts on this subject based on the ideXlab platform.
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Care for children with severe chronic Skin Diseases
European Journal of Pediatrics, 2019Co-Authors: Hannelore De Maeseneer, Dirk Van Gysel, Sofie De Schepper, Carsten R. Lincke, Barbara J. Sibbles, Josette J. W. M. Versteegh, Welling Oei, Robert F. Pangalila, Suzanne G. M. A. PasmansAbstract:In this study, the care for children with a severe chronic Skin Disease in our national expert center of pediatric dermatology was evaluated. Patients and their parents were questioned by using existing questionnaires: 50 pediatric patients completed the modified “my positive health” questionnaire of Huber and 51 parents completed Pelentsov parental needs scale. Nineteen involved professionals answered a questionnaire with open boxes. Parents of children with a variety of chronic Skin Diseases and young adult patients were interviewed to find out what an optimal approach would look like according to them. Children with a severe chronic and/or Congenital Skin disorder score high on the “my positive health” questionnaire, indicating they are able to adapt and self-manage. Their highest median score was measured for the dimension “quality of life.” Their parents expect improvement of “working with health care professionals,” more specifically they want them to adopt a more holistic approach throughout the patient’s life. Structured interviews showed they expect that a multidisciplinary team of care providers determine together with the patient and its family—in advance—which care is needed, at what time and by whom. The interviewed professionals indicated adoption of a holistic multidisciplinary approach as the single largest improvement to achieve better care. Conclusion : Although these children with a severe chronic and/or Congenital Skin Disease were able to adapt and self-manage, they need a more personalized integrative multidisciplinary and systematic transmural approach covering all aspects of life during their lifetime. What is Known: • Severe Skin disorders affect the child and its family in several ways. In our expert center, we try to optimize the care for these children through a multidisciplinary approach. What is New: • To our knowledge, no English publication describes the requirements for good care for pediatric patients with severe chronic Skin disorders and how to optimize this care. We evaluated the health status of children with severe chronic Skin disorders and the strengths and weaknesses of past and current care by questioning these children, their parents, adult patients, and involved professionals.
EA O'Toole - One of the best experts on this subject based on the ideXlab platform.
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Mutations in ABCA12 underlie the severe Congenital Skin Disease harlequin ichthyosis
The American Journal of Human Genetics, 2005Co-Authors: EA O'TooleAbstract:Harlequin ichthyosis (HI) is the most severe and frequently lethal form of recessive Congenital ichthyosis. Although defects in lipid transport, protein phosphatase activity, and differentiation have been described, the genetic basis underlying the clinical and cellular phenotypes of HI has yet to be determined. By use of single-nucleotide-polymorphism chip technology and homozygosity mapping, a common region of homozygosity was observed in five patients with HI in the chromosomal region 2q35. Sequencing of the ABCA12 gene, which maps within the minimal region defined by homozygosity mapping, revealed Disease-associated mutations, including large intragenic deletions and frameshift deletions in 11 of the 12 screened individuals with HI. Since HI epidermis displays abnormal lamellar granule formation, ABCA12 may play a critical role in the formation of lamellar granules and the discharge of lipids into the intercellular spaces, which would explain the epidermal barrier defect seen in this disorder. This finding paves the way for early prenatal diagnosis. In addition, functional studies of ABCA12 will lead to a better understanding of epidermal differentiation and barrier formation
Hubert Pausch - One of the best experts on this subject based on the ideXlab platform.
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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle.
BMC genetics, 2016Co-Authors: Hubert Pausch, Simon Ammermueller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi FriesAbstract:The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a Congenital Skin Disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two Diseased and 41 healthy animals at 41,436 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the Skin Disease to the distal end of bovine chromosome 22 (P = 8.0 × 10−14). The analysis of whole-genome re-sequencing data of one Diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (rs876174537, p.Arg1588X) in the COL7A1 gene that segregates with the Disease. The same mutation was previously detected in three calves with dystrophic epidermolysis bullosa from the Rotes Hohenvieh cattle breed. We show that Diseased animals from Vorderwald and Rotes Hohenvieh cattle are identical by descent for an 8.72 Mb haplotype encompassing rs876174537 indicating they inherited the deleterious allele from a recent common ancestor. Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Hohenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carrier animals. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful Skin Disease.
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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
BMC Genetics, 2016Co-Authors: Hubert Pausch, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Simon Ammermüller, Ruedi FriesAbstract:Background The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a Congenital Skin Disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. Results Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two Diseased and 41 healthy animals at 41,436 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the Skin Disease to the distal end of bovine chromosome 22 ( P = 8.0 × 10^−14). The analysis of whole-genome re-sequencing data of one Diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (rs876174537, p.Arg1588X) in the COL7A1 gene that segregates with the Disease. The same mutation was previously detected in three calves with dystrophic epidermolysis bullosa from the Rotes Höhenvieh cattle breed. We show that Diseased animals from Vorderwald and Rotes Höhenvieh cattle are identical by descent for an 8.72 Mb haplotype encompassing rs876174537 indicating they inherited the deleterious allele from a recent common ancestor. Conclusions Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Höhenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carrier animals. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful Skin Disease.
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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
2016Co-Authors: Hubert Pausch, Simon Ammermueller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi FriesAbstract:Background: The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a Congenital Skin Disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. Results: Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two Diseased and 41 healthy animals at 40,792 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the Skin Disease to the distal end of bovine chromosome 22 (P=8.0x10-14). The analysis of whole-genome re-sequencing data of 1686 animals including one Diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (ss1995911272, p.Arg1588X) in the COL7A1 gene that segregates with the Disease. The same mutation was previously detected in three calves with dystrophic epidermolysis bullosa from the Rotes Hoehenvieh cattle breed. We show that Diseased animals from Vorderwald and Rotes Hoehenvieh cattle are identical by descent for an 8.72 Mb haplotype encompassing ss1995911272 indicating they inherited the deleterious allele from a recent common ancestor. Conclusions: Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Hoehenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that recessive deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carriers of the defective allele. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful Skin Disease.
Hannelore De Maeseneer - One of the best experts on this subject based on the ideXlab platform.
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Care for children with severe chronic Skin Diseases
European Journal of Pediatrics, 2019Co-Authors: Hannelore De Maeseneer, Dirk Van Gysel, Sofie De Schepper, Carsten R. Lincke, Barbara J. Sibbles, Josette J. W. M. Versteegh, Welling Oei, Robert F. Pangalila, Suzanne G. M. A. PasmansAbstract:In this study, the care for children with a severe chronic Skin Disease in our national expert center of pediatric dermatology was evaluated. Patients and their parents were questioned by using existing questionnaires: 50 pediatric patients completed the modified “my positive health” questionnaire of Huber and 51 parents completed Pelentsov parental needs scale. Nineteen involved professionals answered a questionnaire with open boxes. Parents of children with a variety of chronic Skin Diseases and young adult patients were interviewed to find out what an optimal approach would look like according to them. Children with a severe chronic and/or Congenital Skin disorder score high on the “my positive health” questionnaire, indicating they are able to adapt and self-manage. Their highest median score was measured for the dimension “quality of life.” Their parents expect improvement of “working with health care professionals,” more specifically they want them to adopt a more holistic approach throughout the patient’s life. Structured interviews showed they expect that a multidisciplinary team of care providers determine together with the patient and its family—in advance—which care is needed, at what time and by whom. The interviewed professionals indicated adoption of a holistic multidisciplinary approach as the single largest improvement to achieve better care. Conclusion : Although these children with a severe chronic and/or Congenital Skin Disease were able to adapt and self-manage, they need a more personalized integrative multidisciplinary and systematic transmural approach covering all aspects of life during their lifetime. What is Known: • Severe Skin disorders affect the child and its family in several ways. In our expert center, we try to optimize the care for these children through a multidisciplinary approach. What is New: • To our knowledge, no English publication describes the requirements for good care for pediatric patients with severe chronic Skin disorders and how to optimize this care. We evaluated the health status of children with severe chronic Skin disorders and the strengths and weaknesses of past and current care by questioning these children, their parents, adult patients, and involved professionals.