Results 91 to 100 of about 3,237 (188)

Lmx1b maintains Wnt1 within the IsO

, 2000
Cells in the caudal mesencephalon and rostral metencephalon become organized by signals emanating from the isthmus organizer (IsO). The IsO is associated with the isthmus, a morphological constriction of the neural tube which eventually defines the ...
Robert D Riddle, K A Adams, Jennifer M Maida, Kirk A Adams, Jeffrey A Golden   +4 more
core  

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

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   +1 more source

LMX1B positively regulates the expression of PHB1 in hypoxia-induced renal tubular epithelial cell injury

, 2022
Background and objective: Renal interstitial fibrosis (RIF) is a common pathological feature ofvarious chronic kidney diseases that progress to end-stage renal failure.
Lin, ZJ., Zhang, XH., Weng, WJ., Zhou, TB., Xie, Y., Xie, WJ., Yang, ZS., Chen, YC.   +7 more
core   +1 more source

Lmx1a and Lmx1b Function Cooperatively to Regulate Proliferation, Specification, and Differentiation of Midbrain Dopaminergic Progenitors

, 2011
LIM homeodomain transcription factors, Lmx1a and Lmx1b, are required for the development of midbrain dopaminergic (mDA) neurons. Lmx1b is required for the specification and maintenance of mDA neurons, primarily due to its role in isthmic organizer ...
Martin Levesque, Suzanne Claxton, Carol H. Yan, Randy L. Johnson, Siew-Lan Ang   +4 more
core   +1 more source

Expanding the Interface: Overlooked Dermatologic Disorders With Ocular Involvement

JEADV Clinical Practice, Volume 4, Issue 5, Page 1239-1243, December 2025.
A George
wiley   +1 more source

A novel variation in the LMX1B gene with nail-patella syndrome

Pathology - Research and Practice
Nail-patella syndrome (NPS; OMIM #161200) is an autosomal dominant disorder characterized by developmental defects in dorsal limb structures, kidneys, and eyes. The incidence of NPS is attributed to variations in the LMX1B gene. In this report, we present a novel LMX1B variation identified in a Chinese family affected by NPS. The proband, a 15-year-old
Lu Zhang, Jilong Xiong, Hiu-Ming Li, Xia Li, Xuewen Yu, Yingying Liang, Huili Sun, ShuDong Yang, Mumin Shao   +8 more
openaire   +2 more sources

LMX1B mutations with nails and kneecaps: a new paradigm? [PDF]

Nephrology Dialysis Transplantation, 2013
tation from older living donors. Transplantation 2013; 95: 106–113 20. Fuggle SV, Allen JE, Johnson RJ et al. Factors affecting graft and patient survival after live donor kidney transplantation in the UK. Transplantation 2010; 89: 694–701 21. Chang P, Gill J, Dong J et al.
openaire   +2 more sources

LMX1B expression in the brain.

, 2013
LMX1B expression in the anterior cingulate gyrus region of the brain of autism patients compared to that of control samples.
Norio Mori (293291), Kazuhiko Nakamura (293290), Tomoko Toyota (36387), Ayyappan Anitha (293285), Shiro Suda (342655), Yasuhide Iwata (293289), Katsuaki Suzuki (293287), Keiko Iwata (342661), Hideo Matsuzaki (156370), Kazuo Yamada (36398), Toshiro Sugiyama (293313), Masatsugu Tsujii (342667), Takeo Yoshikawa (36402), Ismail Thanseem (19103), Yoshimi Iwayama (36390)   +14 more
core   +1 more source

Arthropathy and proteinuria: nail-patella syndrome revisited

GMS German Medical Science, 2014
[english] Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious
Albishri, Jamal
doaj   +1 more source

Dissecting the role of LIM -homeobox gene LMX1B in the development of the ocular anterior segment

, 2008
Malformation or improper function of anterior segment (AS) tissues contributes to many ocular diseases, including glaucoma, a complex blinding disease that is often associated with elevated intraocular pressure (IOP).
Liu, Pu
core   +1 more source