integumentary system disease

Literature (22)

Literature for DOID 16: integumentary system disease

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome., Sangrithi MN,Bernal JA,Madine M,Philpott A,Lee J,Lee J,Dunphy WG,Venkitaraman AR, Cell. June 17, 2005; 121(6):1097-4172.
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features., Roessler E,Du YZ,Mullor JL,Casas E,Allen WP,Gillessen-Kaesbach G,Roeder ER,Ming JE,Ruiz i Altaba A,Muenke M, Proc Natl Acad Sci U S A. November 11, 2003; 100(23):1091-6490.
A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase., Wade PA,Jones PL,Vermaak D,Wolffe AP, Curr Biol. July 2, 1998; 8(14):0960-9822.
Ocular malformations of Xenopus laevis exposed to nickel during embryogenesis., Hauptman O,Albert DM,Plowman MC,Hopfer SM,Sunderman FW, Ann Clin Lab Sci. January 1, 1993; 23(6):0091-7370.
Multiple sclerosis cerebrospinal fluid produces myelin lesions in tadpole optic nerves., Tabira T,Webster HD,Wray SH, N Engl J Med. September 16, 1976; 295(12):1533-4406.
Influence of lamin A on the mechanical properties of amphibian oocyte nuclei measured by atomic force microscopy., Schäpe J,Prausse S,Radmacher M,Stick R, Biophys J. May 20, 2009; 96(10):1542-0086.
An in vivo chemical library screen in Xenopus tadpoles reveals novel pathways involved in angiogenesis and lymphangiogenesis., Kälin RE,Bänziger-Tobler NE,Detmar M,Brändli AW, Blood. July 30, 2009; 114(5):1528-0020.
Mutations in PYCR1 cause cutis laxa with progeroid features., Reversade B,Escande-Beillard N,Dimopoulou A,Fischer B,Chng SC,Li Y,Shboul M,Tham PY,Kayserili H,Al-Gazali L,Shahwan M,Brancati F,Lee H,Lee H,O'Connor BD,Schmidt-von Kegler M,Merriman B,Nelson SF,Masri A,Alkazaleh F,Guerra D,Ferrari P,Nanda A,Rajab A,Markie D,Gray M,Nelson J,Grix A,Sommer A,Savarirayan R,Janecke AR,Steichen E,Sillence D,Hausser I,Budde B,Nürnberg G,Nürnberg P,Seemann P,Kunkel D,Zambruno G,Dallapiccola B,Schuelke M,Robertson S,Hamamy H,Wollnik B,Van Maldergem L,Mundlos S,Kornak U, Nat Genet. September 1, 2009; 41(9):1546-1718.
APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex., Shimomura Y,Agalliu D,Vonica A,Luria V,Wajid M,Baumer A,Belli S,Petukhova L,Schinzel A,Brivanlou AH,Brivanlou AH,Barres BA,Christiano AM, Nature. April 15, 2010; 464(7291):0143-5221.
Generation of albino Xenopus tropicalis using zinc-finger nucleases., Nakajima K,Nakajima T,Takase M,Yaoita Y, Dev Growth Differ. December 1, 2012; 54(9):1440-169X.
Connexins in epidermal homeostasis and skin disease., Scott CA,Tattersall D,O'Toole EA,Kelsell DP, Biochim Biophys Acta. August 1, 2012; 1818(8):0006-3002.
Ptbp1 and Exosc9 knockdowns trigger skin stability defects through different pathways., Noiret M,Mottier S,Angrand G,Gautier-Courteille C,Lerivray H,Viet J,Paillard L,Mereau A,Hardy S,Audic Y, Dev Biol. January 15, 2016; 409(2):1095-564X.
Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis., Robson A,Owens ND,Baserga SJ,Khokha MK,Griffin JN, BMC Dev Biol. October 26, 2016; 16(1):1471-213X.
A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma., Youssefian L,Vahidnezhad H,Saeidian AH,Mahmoudi H,Karamzadeh R,Kariminejad A,Huang J,Li L,Jannace TF,Fortina P,Zeinali S,White TW,Uitto J, Hum Mutat. February 1, 2019; 40(2):1098-1004.
Desmoplakin is required for epidermal integrity and morphogenesis in the Xenopus laevis embryo., Bharathan NK,Dickinson AJG, Dev Biol. June 15, 2019; 450(2):1095-564X.
TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for Xenopus embryogenesis., Chen M,Amado N,Tan J,Reis A,Ge M,Abreu JG,He X, Elife. September 14, 2020; 9:2050-084X.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.
N-terminal region of RecQ4 inhibits non-homologous end joining and chromatin association of the Ku heterodimer in Xenopus egg extracts., Tsuyama T,Fujita K,Sasaki R,Hamanaka S,Sotoyama Y,Ogawa A,Kusuzaki K,Azuma Y,Tada S, Gene. June 30, 2021; 787:1879-0038.
Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis., Crouthamel OE,Li L,Dilluvio MT,White TW, Int J Mol Sci. January 22, 2023; 24(3):1422-0067.
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S,Tan YX,Loh AYT,Tan KY,Lee H,Lee H,Aziz Z,Nelson SF,Özkan E,Kayserili H,Escande-Beillard N,Reversade B, EMBO Mol Med. May 8, 2023; 15(5):1757-4684.
The Splicing Factor PTBP1 Represses TP63 γ Isoform Production in Squamous Cell Carcinoma., Taylor W,Deschamps S,Reboutier D,Paillard L,Méreau A,Audic Y, Cancer Res Commun. December 1, 2022; 2(12):2767-9764.
ADAM11 a novel regulator of Wnt and BMP4 signaling in neural crest and cancer., Pandey A,Cousin H,Horr B,Alfandari D,Alfandari D, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.

Initiation of DNA replication requires the RECQL4 protein mutated in Rothmund-Thomson syndrome., Sangrithi MN,Bernal JA,Madine M,Philpott A,Lee J,Lee J,Dunphy WG,Venkitaraman AR, Cell. June 17, 2005; 121(6):1097-4172.

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features., Roessler E,Du YZ,Mullor JL,Casas E,Allen WP,Gillessen-Kaesbach G,Roeder ER,Ming JE,Ruiz i Altaba A,Muenke M, Proc Natl Acad Sci U S A. November 11, 2003; 100(23):1091-6490.

A multiple subunit Mi-2 histone deacetylase from Xenopus laevis cofractionates with an associated Snf2 superfamily ATPase., Wade PA,Jones PL,Vermaak D,Wolffe AP, Curr Biol. July 2, 1998; 8(14):0960-9822.

Ocular malformations of Xenopus laevis exposed to nickel during embryogenesis., Hauptman O,Albert DM,Plowman MC,Hopfer SM,Sunderman FW, Ann Clin Lab Sci. January 1, 1993; 23(6):0091-7370.

Multiple sclerosis cerebrospinal fluid produces myelin lesions in tadpole optic nerves., Tabira T,Webster HD,Wray SH, N Engl J Med. September 16, 1976; 295(12):1533-4406.

Influence of lamin A on the mechanical properties of amphibian oocyte nuclei measured by atomic force microscopy., Schäpe J,Prausse S,Radmacher M,Stick R, Biophys J. May 20, 2009; 96(10):1542-0086.

An in vivo chemical library screen in Xenopus tadpoles reveals novel pathways involved in angiogenesis and lymphangiogenesis., Kälin RE,Bänziger-Tobler NE,Detmar M,Brändli AW, Blood. July 30, 2009; 114(5):1528-0020.

Mutations in PYCR1 cause cutis laxa with progeroid features., Reversade B,Escande-Beillard N,Dimopoulou A,Fischer B,Chng SC,Li Y,Shboul M,Tham PY,Kayserili H,Al-Gazali L,Shahwan M,Brancati F,Lee H,Lee H,O'Connor BD,Schmidt-von Kegler M,Merriman B,Nelson SF,Masri A,Alkazaleh F,Guerra D,Ferrari P,Nanda A,Rajab A,Markie D,Gray M,Nelson J,Grix A,Sommer A,Savarirayan R,Janecke AR,Steichen E,Sillence D,Hausser I,Budde B,Nürnberg G,Nürnberg P,Seemann P,Kunkel D,Zambruno G,Dallapiccola B,Schuelke M,Robertson S,Hamamy H,Wollnik B,Van Maldergem L,Mundlos S,Kornak U, Nat Genet. September 1, 2009; 41(9):1546-1718.

APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex., Shimomura Y,Agalliu D,Vonica A,Luria V,Wajid M,Baumer A,Belli S,Petukhova L,Schinzel A,Brivanlou AH,Brivanlou AH,Barres BA,Christiano AM, Nature. April 15, 2010; 464(7291):0143-5221.

Generation of albino Xenopus tropicalis using zinc-finger nucleases., Nakajima K,Nakajima T,Takase M,Yaoita Y, Dev Growth Differ. December 1, 2012; 54(9):1440-169X.

Connexins in epidermal homeostasis and skin disease., Scott CA,Tattersall D,O'Toole EA,Kelsell DP, Biochim Biophys Acta. August 1, 2012; 1818(8):0006-3002.

Ptbp1 and Exosc9 knockdowns trigger skin stability defects through different pathways., Noiret M,Mottier S,Angrand G,Gautier-Courteille C,Lerivray H,Viet J,Paillard L,Mereau A,Hardy S,Audic Y, Dev Biol. January 15, 2016; 409(2):1095-564X.

Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis., Robson A,Owens ND,Baserga SJ,Khokha MK,Griffin JN, BMC Dev Biol. October 26, 2016; 16(1):1471-213X.

A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma., Youssefian L,Vahidnezhad H,Saeidian AH,Mahmoudi H,Karamzadeh R,Kariminejad A,Huang J,Li L,Jannace TF,Fortina P,Zeinali S,White TW,Uitto J, Hum Mutat. February 1, 2019; 40(2):1098-1004.

Desmoplakin is required for epidermal integrity and morphogenesis in the Xenopus laevis embryo., Bharathan NK,Dickinson AJG, Dev Biol. June 15, 2019; 450(2):1095-564X.

TMEM79/MATTRIN defines a pathway for Frizzled regulation and is required for Xenopus embryogenesis., Chen M,Amado N,Tan J,Reis A,Ge M,Abreu JG,He X, Elife. September 14, 2020; 9:2050-084X.

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.

N-terminal region of RecQ4 inhibits non-homologous end joining and chromatin association of the Ku heterodimer in Xenopus egg extracts., Tsuyama T,Fujita K,Sasaki R,Hamanaka S,Sotoyama Y,Ogawa A,Kusuzaki K,Azuma Y,Tada S, Gene. June 30, 2021; 787:1879-0038.

Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis., Crouthamel OE,Li L,Dilluvio MT,White TW, Int J Mol Sci. January 22, 2023; 24(3):1422-0067.

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis., Wong S,Tan YX,Loh AYT,Tan KY,Lee H,Lee H,Aziz Z,Nelson SF,Özkan E,Kayserili H,Escande-Beillard N,Reversade B, EMBO Mol Med. May 8, 2023; 15(5):1757-4684.

The Splicing Factor PTBP1 Represses TP63 γ Isoform Production in Squamous Cell Carcinoma., Taylor W,Deschamps S,Reboutier D,Paillard L,Méreau A,Audic Y, Cancer Res Commun. December 1, 2022; 2(12):2767-9764.

ADAM11 a novel regulator of Wnt and BMP4 signaling in neural crest and cancer., Pandey A,Cousin H,Horr B,Alfandari D,Alfandari D, Front Cell Dev Biol. January 1, 2023; 11:2296-634X.