Results 61 to 70 of about 2,585 (164)
Functional Characterization of LMX1B Mutations Associated with Nail-Patella Syndrome [PDF]
Pediatric Research, 2005 Nail-patella syndrome (NPS) is an autosomal dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and nephropathy. Recently, it was shown that NPS is the result of heterozygous mutations in the LIM-homeodomain gene, LMX1B.
Utako, Sato +5 more
openaire +2 more sources
LMX1B Mutations Cause Hereditary FSGS without Extrarenal Involvement [PDF]
Journal of the American Society of Nephrology, 2013 LMX1B encodes a homeodomain-containing transcription factor that is essential during development. Mutations in LMX1B cause nail-patella syndrome, characterized by dysplasia of the patellae, nails, and elbows and FSGS with specific ultrastructural lesions of the glomerular basement membrane (GBM).
Olivia, Boyer +21 more
openaire +2 more sources
Nature Communications, 2017 Midbrain dopaminergic neurons (mDAs) in the VTA and SNpc project to different regions and form distinct circuits. Here the authors show that transcription factors Lmx1a, Lmx1b, and Otx2 control the axon guidance of mDAs and the segregation of mesolimbic ...
Audrey Chabrat +14 more
doaj +1 more source
Plateau iris syndrome and angle-closure glaucoma in a patient with nail-patella syndrome
American Journal of Ophthalmology Case Reports, 2020 Purpose: To describe a case of plateau iris syndrome (PIS) and angle-closure glaucoma (ACG) in a patient with nail-patella syndrome (NPS). Observation: A 33 year-old woman of Slovakian ancestry from Norway with a history of NPS presented with angle ...
Margot A. Gardin +4 more
doaj +1 more source
Genetics of Common Obesity in Children and Adolescents
Annals of the New York Academy of Sciences, Volume 1553, Issue 1, Page 34-49, November 2025.Abstract Childhood obesity is a multifactorial public health problem worldwide. Genetic variation influences the predisposition to develop obesity at early stages of life. Childhood obesity may be classified as syndromic, monogenic, or polygenic depending on the genetic component.
Guadalupe León‐Reyes +2 more
wiley +1 more source
Transcription Factors Define the Neuroanatomical Organization of the Medullary Reticular Formation
Frontiers in Neuroanatomy, 2013 The medullary reticular formation contains large populations of inadequately described, excitatory interneurons that have been implicated in multiple homeostatic behaviors including breathing, viserosensory processing, vascular tone, and pain.
Paul A Gray
doaj +1 more source
4in1 Procedure in Treating Congenital Dislocation of Patella in Children
Orthopaedic Surgery, Volume 17, Issue 9, Page 2647-2652, September 2025.Congenital dislocation of patella (CDP) is a rare condition. The 4in1 procedure includes lateral release, correction of quadriceps, Roux‐Goldthwait procedure, and medial patello‐femoral ligament (MPFL) reconstruction. Early diagnosis and the 4in1 procedure optimize patellar stability and knee function, preventing long‐term complications.
Meng‐jie Chen +6 more
wiley +1 more source
Early dorsomedial tissue interactions regulate gyrification of distal neocortex
Nature Communications, 2019 The contribution of long-range signaling to cortical gyrification remains poorly understood. In this study, authors demonstrate that the combined genetic loss of transcription factors Lmx1a and Lmx1b, expressed in the telencephalic dorsal midline ...
Victor V. Chizhikov +8 more
doaj +1 more source
Acta Physiologica, Volume 241, Issue 8, August 2025.ABSTRACT Aim Podocytes, highly specialized epithelial cells located in the glomerulus of the kidney, are essential to the filtration barrier that ensures separation of blood and urine. These cells exhibit a unique architecture, characterized by an intricate network of foot processes interconnected by slit diaphragms, which serve as a critical selective
Desiree Loreth +2 more
wiley +1 more source
Nature Communications, 2018 Primary open-angle glaucoma (POAG) leads to progressive vision loss. Here, Choquet et al. perform genome-wide association analysis for POAG in a multi-ethnic cohort, identify a total of nine novel genetic loci and show relevant function of FMNL2 and ...
Hélène Choquet +15 more
doaj +1 more source