Human molecular genetics

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Human molecular genetics

Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Human molecular genetics

Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J

Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10, and Wnt5a.

Human molecular genetics

Ching ST, Infante CR, Du W, Sharir A, Park S, Menke DB, Klein OD

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

Human molecular genetics

Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

Human molecular genetics

Protas ME, Weh E, Footz T, Kasberger J, Baraban SC, Levin AV, Katz LJ, Ritch R, Walter MA, Semina EV, Gould DB

Modeling craniofacial and skeletal congenital birth defects to advance therapies.

Human molecular genetics

Neben CL, Roberts RR, Dipple KM, Merrill AE, Klein OD

Modeling craniofacial and skeletal congenital birth defects to advance therapies.

Human molecular genetics

Neben CL, Roberts RR, Dipple KM, Merrill AE, Klein OD

Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2.

Human molecular genetics

Cesario JM, Landin Malt A, Deacon LJ, Sandberg M, Vogt D, Tang Z, Zhao Y, Brown S, Rubenstein JL, Jeong J

Lhx6 and Lhx8 promote palate development through negative regulation of a cell cycle inhibitor gene, p57Kip2.

Human molecular genetics

Cesario JM, Landin Malt A, Deacon LJ, Sandberg M, Vogt D, Tang Z, Zhao Y, Brown S, Rubenstein JL, Jeong J

DLX4 is associated with orofacial clefting and abnormal jaw development.

Human molecular genetics

Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek AM

Pages