Lista de obras - Carol Wicking - Dominio Público Uruguay

A genome-wide association study identifies five loci influencing facial morphology in Europeans

artículo científico publicado en 2012

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

artículo científico publicado en 2008

A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities

artículo científico publicado en 1996

A novel hook-related protein family and the characterization of hook-related protein 1

artículo científico publicado en 2005

A novel mammalian retromer component, Vps26B.

artículo científico publicado en 2005

ATF3 and p15PAF are novel gatekeepers of genomic integrity upon UV stress

artículo científico publicado en 2009

An in vivo comparative study of sonic, desert and Indian hedgehog reveals that hedgehog pathway activity regulates epidermal stem cell homeostasis

artículo científico publicado en 2004

Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs

artículo científico publicado en 2014

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

artículo científico publicado en 1997

Characterization of Rab23, a negative regulator of sonic hedgehog signaling

artículo científico publicado en 2005

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

artículo científico publicado en 1991

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

artículo científico publicado en 2016

DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method

artículo científico publicado en 2009

Embryos Direct the Traffic ⬇️

artículo científico publicado el 1 de octubre de 2010

Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2.

artículo científico publicado en 2013

Evolutionary conservation and murine embryonic expression of the gene encoding the SERTA domain-containing protein CDCA4 (HEPP)

scientific journal article

Expression of the NET family member Zfp503 is regulated by hedgehog and BMP signaling in the limb

artículo científico publicado en 2008

Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas

artículo científico publicado en 1995

Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome

artículo científico publicado en 1994

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

artículo científico publicado en 2016

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism

artículo científico publicado en 2004

Genomic screen for genes involved in mammalian craniofacial development

artículo científico publicado en 2003

HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressor

artículo científico publicado en 2004

INPP5E regulates phosphoinositide-dependent cilia transition zone function.

artículo científico publicado en 2016

Identification and analysis of novel genes expressed in the mouse embryonic facial primordia

artículo científico publicado en 2006

Inactivation of Patched1 in the mouse limb has novel inhibitory effects on the chondrogenic program

artículo científico publicado en 2010

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

artículo científico publicado en 2009

Initiation and patterning of the snake dentition are dependent on Sonic hedgehog signaling

artículo científico publicado en 2008

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.

artículo científico publicado en 1999

Krt6a-Cre transgenic mice direct LoxP-mediated recombination to the companion cell layer of the hair follicle and following induction by retinoic acid to the interfollicular epidermis

artículo científico publicado en 2004

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

artículo científico publicado en 1997

Murine Wnt-11 and Wnt-12 have temporally and spatially restricted expression patterns during embryonic development

artículo científico publicado en 1995

Murine embryonic expression of the gene for the UV-responsive protein p15(PAF).

artículo científico publicado en 2006

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

artículo científico publicado en 2016

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

scientific journal article

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

artículo científico publicado en 1996

Novel genes regulated by Sonic Hedgehog in pluripotent mesenchymal cells

artículo científico publicado en 2002

Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

article

Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

artículo científico publicado en 2001

Overexpression of Sonic Hedgehog suppresses embryonic hair follicle morphogenesis

scientific journal article

Patched 1 conditional null allele in mice

artículo científico publicado en 2003

Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb

artículo científico publicado en 2009

Patched1 is required in neural crest cells for the prevention of orofacial clefts

artículo científico publicado en 2013

Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development

artículo científico publicado en 2005

Primary cilia function regulates the length of the embryonic trunk axis and urogenital field in mice

scientific journal article

Rab23, a negative regulator of hedgehog signaling, localizes to the plasma membrane and the endocytic pathway

artículo científico publicado en 2003

Scube2 mediates Hedgehog signalling in the zebrafish embryo

artículo científico publicado en 2006

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

scientific journal article

Simple repeat polymorphism at the D9S151 locus.

artículo científico publicado en 1994

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

artículo científico publicado en 2015

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

scientific journal article

The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumor suppressor product p33ING1b.

artículo científico publicado en 2005

The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13.

artículo científico publicado en 2007

The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome

artículo científico publicado en 1998

The metalloendopeptidase gene Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors

artículo científico publicado en 2009

The molecular regulation of vertebrate limb patterning

artículo científico publicado en 2010

The role of hedgehog signalling in tumorigenesis

artículo científico publicado en 2001

Tmem26 is dynamically expressed during palate and limb development but is not required for embryonic survival

artículo científico publicado en 2011

Trafficking, development and hedgehog

artículo científico publicado en 2009

Transmembrane protein 2 (Tmem2) is required to regionally restrict atrioventricular canal boundary and endocardial cushion development

artículo científico publicado en 2011

Twist2 contributes to termination of limb bud outgrowth and patterning through direct regulation of Grem1.

artículo científico publicado en 2012

Unmasking the ciliopathies: craniofacial defects and the primary cilium

artículo científico

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

artículo científico publicado en 2014

Lista de obras de Carol Wicking

A genome-wide association study identifies five loci influencing facial morphology in Europeans

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

A mammalian patched homolog is expressed in target tissues of sonic hedgehog and maps to a region associated with developmental abnormalities

A novel hook-related protein family and the characterization of hook-related protein 1

A novel mammalian retromer component, Vps26B.

ATF3 and p15PAF are novel gatekeepers of genomic integrity upon UV stress

An in vivo comparative study of sonic, desert and Indian hedgehog reveals that hedgehog pathway activity regulates epidermal stem cell homeostasis

Attenuated sensing of SHH by Ptch1 underlies evolution of bovine limbs

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

Characterization of Rab23, a negative regulator of sonic hedgehog signaling

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

DNA elution from buccal cells stored on Whatman FTA Classic Cards using a modified methanol fixation method

Embryos Direct the Traffic ⬇️

Essential developmental, genomic stability, and tumour suppressor functions of the mouse orthologue of hSSB1/NABP2.

Evolutionary conservation and murine embryonic expression of the gene encoding the SERTA domain-containing protein CDCA4 (HEPP)

Expression of the NET family member Zfp503 is regulated by hedgehog and BMP signaling in the limb

Fine deletion mapping on the long arm of chromosome 9 in sporadic and familial basal cell carcinomas

Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.

Functional analysis in Drosophila indicates that the NBCCS/PTCH1 mutation G509V results in activation of smoothened through a dominant-negative mechanism

Genomic screen for genes involved in mammalian craniofacial development

HLS5, a novel RBCC (ring finger, B box, coiled-coil) family member isolated from a hemopoietic lineage switch, is a candidate tumor suppressor

INPP5E regulates phosphoinositide-dependent cilia transition zone function.

Identification and analysis of novel genes expressed in the mouse embryonic facial primordia

Inactivation of Patched1 in the mouse limb has novel inhibitory effects on the chondrogenic program

Inheritance of a novel mutated allele of the OCA2 gene associated with high incidence of oculocutaneous albinism in a Polynesian community

Initiation and patterning of the snake dentition are dependent on Sonic hedgehog signaling

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.

Krt6a-Cre transgenic mice direct LoxP-mediated recombination to the companion cell layer of the hair follicle and following induction by retinoic acid to the interfollicular epidermis

Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes

Murine Wnt-11 and Wnt-12 have temporally and spatially restricted expression patterns during embryonic development

Murine embryonic expression of the gene for the UV-responsive protein p15(PAF).

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome

Novel genes regulated by Sonic Hedgehog in pluripotent mesenchymal cells

Novel mutation in the ?7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome

Overexpression of Sonic Hedgehog suppresses embryonic hair follicle morphogenesis

Patched 1 conditional null allele in mice

Patched 1 is a crucial determinant of asymmetry and digit number in the vertebrate limb

Patched1 is required in neural crest cells for the prevention of orofacial clefts

Pax9 and Jagged1 act downstream of Gli3 in vertebrate limb development

Primary cilia function regulates the length of the embryonic trunk axis and urogenital field in mice

Rab23, a negative regulator of hedgehog signaling, localizes to the plasma membrane and the endocytic pathway

Scube2 mediates Hedgehog signalling in the zebrafish embryo

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

Simple repeat polymorphism at the D9S151 locus.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport ⬇️

The IFT-A complex regulates Shh signaling through cilia structure and membrane protein trafficking

The PCNA-associated factor KIAA0101/p15(PAF) binds the potential tumor suppressor product p33ING1b.

The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13.

The effects of splice site mutations in patients with naevoid basal cell carcinoma syndrome

The metalloendopeptidase gene Pitrm1 is regulated by hedgehog signaling in the developing mouse limb and is expressed in muscle progenitors

The molecular regulation of vertebrate limb patterning

The role of hedgehog signalling in tumorigenesis

Tmem26 is dynamically expressed during palate and limb development but is not required for embryonic survival

Trafficking, development and hedgehog

Transmembrane protein 2 (Tmem2) is required to regionally restrict atrioventricular canal boundary and endocardial cushion development

Twist2 contributes to termination of limb bud outgrowth and patterning through direct regulation of Grem1.

Unmasking the ciliopathies: craniofacial defects and the primary cilium

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies