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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Angela M. Christiano
Daniel S. Greenspan
Jouni Uitto
Research01 May 1993
Nature Genetics

Volume: 4, P: 62-66
Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

Leena Pulkkinen
Angela M. Christiano
Jouni Uitto
Research01 Mar 1994
Nature Genetics

Volume: 6, P: 293-298
A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

Latifa Hilal
Ariane Rochat
Alain Hovnanian
Research01 Nov 1993
Nature Genetics

Volume: 5, P: 287-293
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

Daniel Aberdam
Marie-Florence Galliano
Guerrino Meneguzzi
Research01 Mar 1994
Nature Genetics

Volume: 6, P: 299-304
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Elena Maestrini
Anthony P. Monaco
Angela M. Christiano
Research01 May 1996
Nature Genetics

Volume: 13, P: 70-77
Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

John A. McGrath
Biljana Gatalica
Jouni Uitto
Research01 Sept 1995
Nature Genetics

Volume: 11, P: 83-86
Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

Frédérique Vidal
Daniel Aberdam
Guerrino Meneguzzi
Research01 Jun 1995
Nature Genetics

Volume: 10, P: 229-234
A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa

Dystrophic Epidermolysis Bullosa is an uncurable monogenetic skin disease. Here, Neumayer et al. develop a cGMP-compatible CRISPR- and iPS cell-based approach that produces gene-corrected, autologous skin composite grafts for definitive treatment.

Gernot Neumayer
Jessica L. Torkelson
Anthony E. Oro
ResearchOpen Access11 Jul 2024
Nature Communications

Volume: 15, P: 1-18
Exposing the human nude phenotype

Jorge Frank
Claudio Pignata
Angela M. Christiano
Research08 Apr 1999
Nature

Volume: 398, P: 473-474
Trans-gender induction of hair follicles

Human follicle cells can be induced to grow in an incompatible host of the other sex.

Amanda J. Reynolds
Clifford Lawrence
Colin A. B. Jahoda
Research04 Nov 1999
Nature

Volume: 402, P: 33-34
Contamination source modeling with SCRuB improves cancer phenotype prediction from microbiome data

Modeling contamination sources over multiple samples enhances the analysis of microbiome data.

George I. Austin
Heekuk Park
Tal Korem
Research16 Mar 2023
Nature Biotechnology

Volume: 41, P: 1820-1828
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Diana C Blaydon
Yoshiyuki Ishii
David P Kelsell
Research15 Oct 2006
Nature Genetics

Volume: 38, P: 1245-1247
Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

Yutaka Shimomura
Muhammad Wajid
Angela M Christiano
Research24 Feb 2008
Nature Genetics

Volume: 40, P: 335-339
A multi-organ chip with matured tissue niches linked by vascular flow

Tissue chips with matured human heart, liver, bone and skin tissue niches linked by recirculating vascular flow recapitulate interdependent functions of these organs.

Kacey Ronaldson-Bouchard
Diogo Teles
Gordana Vunjak-Novakovic
Research27 Apr 2022
Nature Biomedical Engineering

Volume: 6, P: 351-371
Impact of diet and host genetics on the murine intestinal mycobiome

In this study, 591 mice from an advanced-intercross mouse line were used to provide evidence that fungi are regulated by host genetics, while uncovering a regulatory role of diet on the composition of fungi in the murine gut.

Yask Gupta
Anna Lara Ernst
Tanya Sezin
ResearchOpen Access14 Feb 2023
Nature Communications

Volume: 14, P: 1-17
Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Alopecia areata (AA) is a common autoimmune disease with a known genetic component. Here, the authors analyse 3,253 AA patients and 7,543 healthy controls, and identify two new risk loci and disrupted immune response pathways associated with the disease.

Regina C. Betz
Lynn Petukhova
Angela M. Christiano
Research22 Jan 2015
Nature Communications

Volume: 6, P: 1-8
Castration-mediated IL-8 promotes myeloid infiltration and prostate cancer progression

Drake and colleagues demonstrate that castration in prostate cancer models promotes IL-8 secretion and immunosuppressive myeloid-derived suppressor cell migration, and that inhibiting this axis in combination with checkpoint blockade can mitigate tumor progression.

Zoila A. Lopez-Bujanda
Michael C. Haffner
Charles G. Drake
Research19 Jul 2021
Nature Cancer

Volume: 2, P: 803-818
Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

Common variants have been discovered to be associated with Alopecia Areata; however, rare variants have been less well studied. Here, the authors use whole-exome sequencing to identify associated rare variants in the hair keratin gene KRT82. Further, they find that individuals with Alopecia Areata have reduced expression of KRT82 in the skin and hair follicle.

Stephanie O. Erjavec
Sahar Gelfman
Angela M. Christiano
ResearchOpen Access10 Feb 2022
Nature Communications

Volume: 13, P: 1-13
Alopecia areata

Alopecia areata is an autoimmune disorder characterized by transient hair loss. Severity can range from distinct patches to total hair loss. In this Primer, the authors describe the underlying pathophysiology of this complex polygenic disease, as well as the epidemiology, diagnosis and management.

C. Herbert Pratt
Lloyd E. King Jr
John P. Sundberg
Reviews16 Mar 2017
Nature Reviews Disease Primers

Volume: 3, P: 1-17
Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition

Cytotoxic T cells are necessary and sufficient for the development of alopecia areata in mice, while JAK inhibition promotes regrowth of hair in patients and mice with established disease.

Luzhou Xing
Zhenpeng Dai
Raphael Clynes
Research17 Aug 2014
Nature Medicine

Volume: 20, P: 1043-1049
Tissue engineering of human hair follicles using a biomimetic developmental approach

Human skin constructs hold potential for regenerative medicine, but the incorporation of hair follicles into such constructs is a challenge. Here, the authors use 3D printed molds to pattern hair follicle cell types in a physiological organization, and achieve human hair growth on the back of a mouse.

Hasan Erbil Abaci
Abigail Coffman
Angela M. Christiano
ResearchOpen Access13 Dec 2018
Nature Communications

Volume: 9, P: 1-11
Bumps and pumps, SERCA 1999

Monica Peacocke
Angela M. Christiano
News & Views01 Mar 1999
Nature Genetics

Volume: 21, P: 252-253
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

The genetic basis of alopecia areata, one of the most common human autoimmune diseases, is largely unknown. This study reports a genome-wide association for this trait that implies the involvement of acquired and innate immunity. Among significant associations are the cytomegalovirus UL16-binding protein genes, which encode activating ligands for the natural killer cell receptor, NKG2D, here implicated for the first time in any autoimmune disease.

Lynn Petukhova
Madeleine Duvic
Angela M. Christiano
Research01 Jul 2010
Nature

Volume: 466, P: 113-117
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

Hereditary hypotrichosis simplex is a rare form of hereditary hair loss in humans, where the hair follicle is miniaturized. Now, the gene involved has been identified, using genetic linkage analysis in three affected families. The gene, APCDD1, is expressed in human hair follicles. It encodes a previously unknown membrane-bound glycoprotein that inhibits signalling through the Wnt protein and functions upstream of β-catenin.

Yutaka Shimomura
Dritan Agalliu
Angela M. Christiano
Research15 Apr 2010
Nature

Volume: 464, P: 1043-1047
A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

Mazen Kurban
Muhammad Wajid
Angela M Christiano
Research04 Aug 2011
Journal of Human Genetics

Volume: 56, P: 701-706
NIH SenNet Consortium to map senescent cells throughout the human lifespan to understand physiological health

This Perspective lays out the impetus and goals of the Cellular Senescence Network established to comprehensively identify and characterize senescent cells (SnCs) across tissues and lifespan, providing a publicly available SnC atlas.

Patty J. Lee
Christopher C. Benz
Mingyu Yang
Reviews20 Dec 2022
Nature Aging

Volume: 2, P: 1090-1100
Recapitulating T cell infiltration in 3D psoriatic skin models for patient-specific drug testing

Jung U Shin
Hasan E. Abaci
Angela M. Christiano
ResearchOpen Access05 Mar 2020
Scientific Reports

Volume: 10, P: 1-12
Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene

Rita M Cabral
Mazen Kurban
Angela M Christiano
Correspondence23 May 2013
Journal of Human Genetics

Volume: 58, P: 566-567

Search

A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa

A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (LAMININ–5)

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa

Exposing the human nude phenotype

Trans-gender induction of hair follicles

Contamination source modeling with SCRuB improves cancer phenotype prediction from microbiome data

The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia

Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

A multi-organ chip with matured tissue niches linked by vascular flow

Impact of diet and host genetics on the murine intestinal mycobiome

Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci

Castration-mediated IL-8 promotes myeloid infiltration and prostate cancer progression

Whole exome sequencing in Alopecia Areata identifies rare variants in KRT82

Alopecia areata

Alopecia areata is driven by cytotoxic T lymphocytes and is reversed by JAK inhibition

Tissue engineering of human hair follicles using a biomimetic developmental approach

Bumps and pumps, SERCA 1999

Genome-wide association study in alopecia areata implicates both innate and adaptive immunity

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex

A nonsense mutation in the HOXD13 gene underlies synpolydactyly with incomplete penetrance

NIH SenNet Consortium to map senescent cells throughout the human lifespan to understand physiological health

Recapitulating T cell infiltration in 3D psoriatic skin models for patient-specific drug testing

Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene

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