Results 181 to 190 of about 4,807 (209)

Combined TSC1 and LMX1B mutations in a single patient

Clinical Dysmorphology, 2014
Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorders with two novel frameshift TSC1 and LMX1B mutations, we describe the phenotypes.
Ola, Khalifa, Nadia, Al-Sakati, Khalid, Al-Mane, Ameera, Balobaid, Zuhair N, Al-Hassnan   +4 more
openaire   +2 more sources

Myelin bodies in LMX1B-associated nephropathy: potential for misdiagnosis

Pediatric Nephrology, 2020
Myelin figures, or zebra bodies, seen on electron microscopy were historically considered pathognomonic of Fabry disease, a rare lysosomal storage disorder caused by alpha-galactosidase A deficiency and associated with X-linked recessive mode of inheritance.
Li, Lei, Gia, Oh, Scott, Sutherland, Graham, Abra, John, Higgins, Richard, Sibley, Megan, Troxell, Neeraja, Kambham   +7 more
openaire   +2 more sources

Identification of LMX1B as a novel oncogene in human ovarian cancer [PDF]

Oncogene, 2013
Ovarian cancers are thought to result from the accumulation of multiple genetic aberrations that transform ovarian and/or fallopian tube surface epithelial cells, allowing for their abnormal growth, proliferation and metastasis. In the report presented here, we carried out genome-wide copy-number analysis using comparative genomic hybridization on a ...
W B Growdon, M J Birrer, S Orsulic
exaly   +3 more sources

Identification of genes controlled by LMX1B in E13.5 mouse limbs

Developmental Dynamics, 2010
AbstractDuring limb development, the dorsal limb mesenchyme expression of the transcription factor LMX1B is required for dorsoventral limb patterning. In mice, Lmx1b mutations result in the mirror‐image duplication of ventral limb structures and loss of dorsal limb structures.
Artur Kania
exaly   +3 more sources

Role of Lmx1b and Wnt1 in mesencephalon and metencephalon development

Development, 2002
The isthmus is the organizing center for the tectum and cerebellum. Fgf8 and Wnt1 are secreted molecules expressed around the isthmus. The function of Fgf8 has been well analyzed, and now accepted as the most important organizing signal. Involvement of Wnt1 in the isthmic organizing activity was suggested by analysis of Wnt1 knockout mice. But its role
Eiji, Matsunaga, Tatsuya, Katahira, Harukazu, Nakamura   +2 more
openaire   +2 more sources

Identification and characterization of LMX1B target genes

2016
Mutationen im LMX1B Gen sind mit einer autosomal-dominanten Erkrankung namens Nagel-Patella-Syndrom verbunden, die Gliedmaßen, Augen, Gehirn und Nieren beeinflusst. Hauptziele von LMX1B in den Nieren sind die Fussfortsätze und Schlitzmembran der Podozyten.
openaire   +2 more sources

Absence of digit tip regeneration in Lmx1b-deficient nailless digits suggests a role for Lmx1b distinct from patterning

2023
Trabajo presentado en el 19th International Congress of Developmental Biology, celebrado en Guia (Portugal) del 16 al 20 de octubre de 2022.
Castilla-Ibeas, Alejandro, Zdral, Sofía, Galán, Laura, Haro, Endika, Allou, Lila, Campa, Víctor M., Icardo, Jose M., Mundlos, Stefan, Oberg, Kerby C., Ros, María A.   +9 more
openaire   +1 more source

Deciphering Lmx1b regulation during development and evolution

2023
Trabajo presentado en la 16th International Conference on Limb Development, regeneration, and evolution, celebrada en Cambridge (Estados Unidos) del 08 al 11 de agosto de 2022.
Zdral, Sofía, Castilla-Ibeas, Alejandro, Naranjo Duran, Silvia, Mate, Irene, Juliá, Miguel, Galán, Laura, Tena, Juan J., Ros, María A.   +7 more
openaire   +1 more source

LMX1B and the Nail Patella Syndrome

2008
Abstract Nail patella syndrome (NPS) is a dominantly inherited skeletal malformation syndrome. Patients have characteristic features including nail and patella hypoplasia, elbow and knee deformities, nephropathy, and ocular defects. The condition is characterized by high penetrance, variable expressivity, and signi)cant intrafamilial ...
Roy Morello, Jennifer N Lennington,, Brendan Lee   +2 more
openaire   +1 more source

Digit tip regeneration: role of Lmx1b

2023
Trabajo presentado en ISRB Webinars, celebrado en modalidad virtual el 06 de diciembre de 2022.
openaire   +1 more source