List of works - Hans Christian Hennies

<i>In vitro</i> Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells ⬇️

scientific article published on December 14, 2011

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

scientific article published on 18 October 2006

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

scientific article

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

scientific article

Bathing suit ichthyosis

scientific article published on 03 June 2010

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

scientific article

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

scientific article

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

scientific article

Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins

scientific article

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia

scientific article

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

scientific article published on 26 October 2011

Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26

scientific article

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

scientific article

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing

scientific article

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III

scientific article

Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene ⬇️

scientific article published on November 1, 2003

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

scientific article

Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies ⬇️

scientific article published on March 22, 2012

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

scientific article

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

scientific article

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease

scientific article

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis

scientific article

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

scientific article

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

scientific article

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex

scientific article

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

scientific article

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.

scientific article

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease

scientific article

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

scientific article published on 27 September 2016

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.

scientific article

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

scientific article

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

scientific article

Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation

scientific article published on 24 July 2006

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

List of works by Hans Christian Hennies

&lt;i&gt;In vitro&lt;/i&gt; Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells ⬇️

A novel mutation in GJA8 associated with autosomal dominant congenital cataract in a family of Indian origin.

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome

Bathing suit ichthyosis

Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype

Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins

Genetic variation in the human androgen receptor gene is the major determinant of common early-onset androgenetic alopecia

Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata

Genome-wide scan and fine-mapping linkage study of androgenetic alopecia reveals a locus on chromosome 3q26

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

Ichthyosis, follicular atrophoderma, and hypotrichosis caused by mutations in ST14 is associated with impaired profilaggrin processing

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III

Late-onset Papillon-Lefèvre syndrome without alteration of the cathepsin C gene ⬇️

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11

Long-Term Faithful Recapitulation of Transglutaminase 1–Deficient Lamellar Ichthyosis in a Skin-Humanized Mouse Model, and Insights from Proteomic Studies ⬇️

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

Mal de Meleda (MDM) caused by mutations in the gene for SLURP-1 in patients from Germany, Turkey, Palestine, and the United Arab Emirates

Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's Disease

Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

Novel gene locus for autosomal dominant left ventricular noncompaction maps to chromosome 11p15.

Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759.

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

Role of epidermis-type lipoxygenases for skin barrier function and adipocyte differentiation

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

<i>In vitro</i> Modeling of Ryanodine Receptor 2 Dysfunction Using Human Induced Pluripotent Stem Cells ⬇️