日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex

INTS13 变异导致隐性发育性纤毛病,破坏整合子复合体的组装

Lauren G Mascibroda #, Mohammad Shboul #, Nathan D Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N Jodoin, Poojitha Sitaram, Laura A Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie

Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling

CHSY1(一种分泌型 FRINGE 酶)的缺失会通过增加 NOTCH 信号导致人类综合征性短指症

Jing Tian, Ling Ling, Mohammad Shboul, Hane Lee, Brian O'Connor, Barry Merriman, Stanley F Nelson, Simon Cool, Osama H Ababneh, Azmy Al-Hadidy, Amira Masri, Hanan Hamamy, Bruno Reversade

Mutations in PYCR1 cause cutis laxa with progeroid features

PYCR1 突变导致皮肤松弛,并伴有早衰症状

Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Björn Fischer, Serene C Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hülya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D O'Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F Nelson, Am

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan

SEMD 聚集蛋白聚糖型隐性骨骼发育不良是由影响聚集蛋白聚糖 C 型凝集素结构域的错义突变引起的

Stuart W Tompson, Barry Merriman, Vincent A Funari, Maryline Fresquet, Ralph S Lachman, David L Rimoin, Stanley F Nelson, Michael D Briggs, Daniel H Cohn, Deborah Krakow

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

短肋多指综合征中逆行转运蛋白 DYNC2H1 缺陷导致的纤毛异常

Amy E Merrill, Barry Merriman, Claire Farrington-Rock, Natalia Camacho, Eiman T Sebald, Vincent A Funari, Matthew J Schibler, Marc H Firestein, Zachary A Cohn, Mary Ann Priore, Alicia K Thompson, David L Rimoin, Stanley F Nelson, Daniel H Cohn, Deborah Krakow