Genetic Testing in CYLD Cutaneous Syndrome: An Update

Pulmonary Cylindromas in CYLD Cutaneous Syndrome: A Rare Differential Diagnosis of Pulmonary Adenoid Cystic Carcinoma

(2021) Judith E. Bülau et al.   Clinical Lung Cancer

TRAF3 and NBR1 both influence the effect of the disease‐causing CYLD(Arg936X) mutation on NF‐κB activity

(2021) Judit Danis et al.   EXPERIMENTAL DERMATOLOGY

CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

(2020) Carol Dobson-Stone et al.   BRAIN

Pre‐emptive intra‐auricular electrosurgical resurfacing of cylindromas to prevent conductive deafness in CYLD cutaneous syndrome

(2020) J. Langtry et al.   BRITISH JOURNAL OF DERMATOLOGY

Identification of putative phenotype‐modifying genetic factors associated with phenotypic diversity in Brooke‐Spiegler syndrome

(2020) Éva Melinda Pap et al.   EXPERIMENTAL DERMATOLOGY

Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family

(2019) Ye Huang et al.   JOURNAL OF DERMATOLOGY

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent to child transmission

(2019) Majid Arefi et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma

(2019) Mamunur Rashid et al.   Nature Communications

Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome

(2019) Helen R. Davies et al.   Nature Communications

Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association

(2018) A Dubois et al.   ACTA DERMATO-VENEREOLOGICA

Inherited pulmonary cylindromas: extending the phenotype of CYLD mutation carriers

(2018) S.M. Brown et al.   BRITISH JOURNAL OF DERMATOLOGY

Tracking tumor kinetics in patients with germline CYLD mutations

(2018) Sarah Brown et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Targeting Tropomyosin Receptor Kinase in Cutaneous CYLD Defective Tumors With Pegcantratinib

(2018) Marina Danilenko et al.   JAMA Dermatology

Brooke–Spiegler Syndrome

(2018) Gunes Cakmak Genc et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

(2016) Katalin Farkas et al.   BMC GENETICS

Cylindromatosis-A Protective Molecule against Liver Diseases

(2016) Claus Hellerbrand et al.   MEDICINAL RESEARCH REVIEWS

SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC Signaling

(2016) Paul R. Elliott et al.   MOLECULAR CELL

SPATA2-Mediated Binding of CYLD to HOIP Enables CYLD Recruitment to Signaling Complexes

(2016) Sebastian Kupka et al.   Cell Reports

Twelve years' observation of multiple familial trichoepithelioma with squamous carcinoma

(2016) Song Feng et al.   INDIAN JOURNAL OF DERMATOLOGY

A novelCYLDgene mutation and multiple basal cell carcinomas in a patient with Brooke-Spiegler syndrome

(2015) M. Shiver et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Report of Three Novel Germline CYLD Mutations in Unrelated Patients with Brooke-Spiegler Syndrome, Including Classic Phenotype, Multiple Familial Trichoepitheliomas and Malignant Transformation

(2015) Iliana Tantcheva-Poór et al.   DERMATOLOGY

Brooke-Spiegler syndrome presenting multiple concurrent cutaneous and parotid gland neoplasms: Cytologic findings on fine-needle sample and description of a novel mutation of the CYLD gene

(2015) Maria Gabriella Malzone et al.   DIAGNOSTIC CYTOPATHOLOGY

Phenotype–genotype correlations for clinical variants caused by CYLD mutations

(2015) Nikoletta Nagy et al.   European Journal of Medical Genetics

A case of Brooke–Spiegler syndrome with a novel mutation in the CYLD gene in a patient with aggressive non-Hodgkin’s lymphoma

(2015) F. Hunstig et al.   JOURNAL OF CANCER RESEARCH AND CLINICAL ONCOLOGY

The cylindromatosis gene product, CYLD, interacts with MIB2 to regulate notch signalling

(2015) Neil Rajan et al.   Oncotarget

Large Germline Deletions of the CYLD Gene in Patients With Brooke–Spiegler Syndrome and Multiple Familial Trichoepithelioma

(2014) Tomas Vanecek et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma

(2014) J. W. Wu et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

Spiradenoma and cylindroma originate from the hair follicle bulge and not from the eccrine sweat gland: an immunohistochemical study with CD200 and other stem cell markers

(2014) Klaus Sellheyer   JOURNAL OF CUTANEOUS PATHOLOGY

NF-κB Activity Is Required for Anagen Maintenance in Human Hair Follicles In Vitro

(2014) Jennifer E. Kloepper et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Ensembl 2015

(2014) Fiona Cunningham et al.   NUCLEIC ACIDS RESEARCH

A Mutational Hotspot in CYLD Causing Cylindromas: A Comparison of Phenotypes Arising in Different Genetic Backgrounds

(2013) N Nagy et al.   ACTA DERMATO-VENEREOLOGICA

Multiple Trichoepitheliomas Associated With a Novel Heterozygous Mutation in the CYLD Gene as an Adjunct to the Histopathological Diagnosis

(2013) Bergman Reuven et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

Detection of grass carp reovirus (GCRV) with monoclonal antibodies

(2013) Jing Hongli et al.   ARCHIVES OF VIROLOGY

Skull Invaders: When Surgical Pathology and Neuropathology Worlds Collide

(2013) Hilary S. Serracino et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Novel and Recurrent Germline and Somatic Mutations in a Cohort of 67 Patients From 48 Families With Brooke–Spiegler Syndrome Including the Phenotypic Variant of Multiple Familial Trichoepitheliomas and Correlation With the Histopathologic Findings in 379 Biopsy Specimens

(2012) Petr Grossmann et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

Blaschkoid distribution of cylindromas in a germline CYLD mutation carrier

(2012) M. Furuichi et al.   BRITISH JOURNAL OF DERMATOLOGY

A novel missense mutation of theCYLDgene identified in a Hungarian family with Brooke-Spiegler syndrome

(2012) Nikoletta Nagy et al.   EXPERIMENTAL DERMATOLOGY

Basal cell carcinoma arising in association with trichoepithelioma in a case of Brooke-Spiegler syndrome with a novel genetic mutation in CYLD

(2012) Lucy Melly et al.   JOURNAL OF CUTANEOUS PATHOLOGY

A New Cylindromatosis (CYLD) Gene Mutation in a Case of Brooke-Spiegler Syndrome Masquerading as Basal Cell Carcinoma of the Eyelids

(2012) Christian C. Hester et al.   OPHTHALMIC PLASTIC AND RECONSTRUCTIVE SURGERY

CYLD negatively regulates transforming growth factor-β-signalling via deubiquitinating Akt

(2012) Jae Hyang Lim et al.   Nature Communications

Multiple (Familial) Trichoepitheliomas: A Clinicopathological and Molecular Biological Study, Including CYLD and PTCH Gene Analysis, of a Series of 16 Patients

(2011) Dmitry V Kazakov et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma

(2011) Mingfei Chen et al.   AUSTRALASIAN JOURNAL OF DERMATOLOGY

Transition from cylindroma to spiradenoma in CYLD-defective tumours is associated with reduced DKK2 expression

(2011) Neil Rajan et al.   JOURNAL OF PATHOLOGY

A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma

(2011) Z.-X. Ying et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Dysregulated TRK signalling is a therapeutic target in CYLD defective tumours

(2011) N Rajan et al.   ONCOGENE

Brooke-Spiegler Syndrome: Report of 10 Patients From 8 Families With Novel Germline Mutations

(2010) Radek Sima et al.   DIAGNOSTIC MOLECULAR PATHOLOGY

Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis

(2010) Ans M. W. van den Ouweland et al.   Familial Cancer

Brooke-Spiegler syndrome: report of a case with a novel mutation in the CYLD gene and different types of somatic mutations in benign and malignant tumors

(2010) Dmitry V. Kazakov et al.   JOURNAL OF CUTANEOUS PATHOLOGY

Loss of the Tumor Suppressor CYLD Enhances Wnt/β-Catenin Signaling through K63-Linked Ubiquitination of Dvl

(2010) Daniele V.F. Tauriello et al.   MOLECULAR CELL

Ubiquitin chain cleavage: CYLD at work

(2010) Ramin Massoumi   TRENDS IN BIOCHEMICAL SCIENCES

A Case of Brooke-Spiegler Syndrome With a Novel Germline Deep Intronic Mutation in the CYLD Gene Leading to Intronic Exonization, Diverse Somatic Mutations, and Unusual Histology

(2009) Dmitry V Kazakov et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Morphologic Diversity of Malignant Neoplasms Arising in Preexisting Spiradenoma, Cylindroma, and Spiradenocylindroma Based on the Study of 24 Cases, Sporadic or Occurring in the Setting of Brooke-Spiegler Syndrome

(2009) Dmitry V. Kazakov et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma

(2009) Fu-Xi Wang et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations

(2009) Neil Rajan et al.   ARCHIVES OF DERMATOLOGY

Five novel germline function-impairing mutations ofCYLDin Italian patients with multiple cylindromas

(2009) S Nasti et al.   CLINICAL GENETICS

Familial Cylindromatosis and Brooke-Spiegler Syndrome

(2009) Neil Rajan et al.   DERMATOLOGIC SURGERY

Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling

(2009) Patrick W. Blake et al.   HUMAN MUTATION

Multiple trichoepitheliomas - a novel mutation in the CYLD gene

(2009) C Amaro et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Spiradenoma and Spiradenocylindroma With an Adenomatous or Atypical Adenomatous Component: A Clinicopathological Study of 6 Cases

(2008) Dmitry V Kazakov et al.   AMERICAN JOURNAL OF DERMATOPATHOLOGY

Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma

(2008) Y-H. Liang et al.   BRITISH JOURNAL OF DERMATOLOGY

A novel splicing mutation of theCYLDgene in a Taiwanese family with multiple familial trichoepithelioma

(2008) T.-M. Huang et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

The Tumor Suppressor CYLD Regulates Microtubule Dynamics and Plays a Role in Cell Migration

(2008) Jinmin Gao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Multiple familial trichoepithelioma and familial cylindroma: one cause!

(2008) AP Oranje et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Five New CYLD Mutations in Skin Appendage Tumors and Evidence that Aspartic Acid 681 in CYLD Is Essential for Deubiquitinase Activity

(2007) Stéphanie Almeida et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY