Results 1 to 10 of about 4,772 (187)

Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment [PDF]

eLife
Since the trabecular meshwork (TM) is central to intraocular pressure (IOP) regulation and glaucoma, a deeper understanding of its genomic landscape is needed.
Nicholas Tolman, Taibo Li, Revathi Balasubramanian, Guorong Li, Rebecca Pfeiffer, Violet Bupp-Chickering, Ruth A Kelly, Marina Simón, John Peregrin, Christa Montgomery, Bryan Jones, W Daniel Stamer, Jiang Qian, Simon WM John   +13 more
doaj   +2 more sources

Transcription Factors Define the Neuroanatomical Organization of the Medullary Reticular Formation [PDF]

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   +4 more sources

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]

BMC Nephrology
Hereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane.
Winston Wing-Shing Fung, Maggie Lo-Yee Yau, Pensi Ping Hei Lam, Cheuk-Chun Szeto, Shuk-Ching Chong, Kai-Ming Chow   +5 more
doaj   +2 more sources

LMX1B haploinsufficiency due to variants in the 5’UTR as a cause of Nail-Patella syndrome [PDF]

npj Genomic Medicine
Nail-Patella syndrome (NPS) is a rare autosomal dominant condition due to haploinsufficiency of LMX1B, caused by loss-of-function variants affecting the coding sequence, or partial/whole deletions of the gene.
Serena Cappato, Maria Teresa Divizia, Ludovica Menta, Giulia Rosti, Aldamaria Puliti, Joana Soraia Martinheira Da Silva, Giuseppe Santamaria, Marco Di Duca, Patrizia Ronchetto, Francesca Faravelli, Federico Zara, Renata Bocciardi   +11 more
doaj   +2 more sources

Lessons learned from a muscle study in nail-patella syndrome [PDF]

Orphanet Journal of Rare Diseases
Background Nail-patella (NPS) syndrome is an autosomal dominant disorder caused by mutations in the LMX1B gene and manifests with involvement of kidneys, nails, eyes as well as skeletal musculature.
Luisa Paul, Anne Schänzer, Christel Depienne, Andreas Hentschel, Nicolai Kohlschmidt, Ulrike Schara-Schmidt, Christopher Jannik Nelke, Andreas Roos, Heike Kölbel   +8 more
doaj   +2 more sources

Identification of a novel missense variant in the LMX1B gene associated with nail-patella syndrome in a Chinese family [PDF]

Frontiers in Genetics
BackgroundNail-patella syndrome (NPS) is an autosomal dominant disorder caused by the variants of the LMX1B gene, affecting several systems, including musculoskeletal, renal, and ocular systems. Despite the well-established genetic basis, the complicated
Qian Sun, Yaqiong Ren, Yue Cao, Wen Zheng, Guanghao Su, Xiaodong Wang, Hongying Wang   +6 more
doaj   +2 more sources

Characterisation of lmx1b paralogues in zebrafish reveals divergent roles in skeletal, kidney and muscle development [PDF]

Biology Open
Joanna J. Moss, Chris R. Neal, Erika Kague, Jon D. Lane, Chrissy L. Hammond   +4 more
doaj   +3 more sources

A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins [PDF]

Human Genome Variation
Nail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This study revealed a likely pathogenic LMX1B variant, NM_002316.4: c.723_726delinsC (p.Ser242del), in ...
Nozomu Kishio, Kazuhiro Iwama, Sayuri Nakanishi, Ryosuke Shindo, Masaki Yasui, Naoki Nicho, Atsushi Takahashi, Mana Kohara, Michisato Hirata, Takahiro Kemmotsu, Miki Tanoshima, Shuichi Ito   +11 more
doaj   +2 more sources

Non-dialyzable uremic toxins and renal tubular cell damage in CKD patients: a systems biology approach [PDF]

European Journal of Medical Research
Background Chronic kidney disease presents global health challenges, with hemodialysis as a common treatment. However, non-dialyzable uremic toxins demand further investigation for new therapeutic approaches.
Roya Asadi, Pejman Shadpour, Akram Nakhaei   +2 more
doaj   +2 more sources

Adult raphe-specific deletion of Lmx1b leads to central serotonin deficiency. [PDF]

PLoS ONE, 2011
The transcription factor Lmx1b is essential for the differentiation and survival of central serotonergic (5-HTergic) neurons during embryonic development. However, the role of Lmx1b in adult 5-HTergic neurons is unknown.
Ning-Ning Song, Jian-Bo Xiu, Ying Huang, Jia-Yin Chen, Lei Zhang, Lise Gutknecht, Klaus Peter Lesch, He Li, Yu-Qiang Ding   +8 more
doaj   +1 more source