Results 161 to 170 of about 58,228 (350)

MSX1 involved selective tooth agenesis and abnormal labial frenum, pedigree, and retrospective study [PDF]

, 2022
Yulong Zhu, Yanli Zhang, Jing Dong, Wenyan Ruan, Shaoqing Yang, Ping Huang, Xiaohong Duan   +6 more
openalex   +1 more source

Enamel Defects in Carriers of a Novel LAMA3 Mutation Underlying Epidermolysis Bullosa [PDF]

, 2012
Jonkman, MF, Pasmooij, AM, Stellingsma, C, Yuen, WY   +3 more
core   +2 more sources

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Tooth Loss Associated with Abnormal Electrocardiographic Findings in Octogenarians

, 2005
Yutaka Takata, Toshihiro Ansai, Shuji Awano, Kazuo Sonoki, Sumio Akifusa, Masayo Fukuhara, Masanori Wakisaka, Tadamichi Takehara   +7 more
openalex   +2 more sources

Early targeting of endoneurial macrophages alleviates the neuropathy and affects abnormal Schwann cell differentiation in a mouse model of Charcot‐Marie‐Tooth 1A [PDF]

, 2022
Dennis Klein, Janos Groh, Xidi Yuan, Kristina Berve, Ruth M. Stassart, Robert Fledrich, Rudolf Martini   +6 more
openalex   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, EarlyView.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

Intraoral Sensory Abnormalities Caused by Tooth Extraction in a Patient with Chronic Inflammatory Demyelinating Polyneuropathy

, 2018
Takuya Naganawa, Jumpei Uchida, Toshihiro Okamoto, Tomohiro Ando, Abhishek Kumar   +4 more
openalex   +1 more source

Genetic Deletion of Cadm4 Results in Myelin Abnormalities Resembling Charcot-Marie-Tooth Neuropathy [PDF]

, 2013
Neev Golan, Elena Kartvelishvily, Ivo Spiegel, D. Salomon, Helena Sabanay, Katya Rechav, Anya Vainshtein, Shahar Frechter, Galia Maik-Rachline, Yael Eshed‐Eisenbach, Takashi Momoi, Elior Peles   +11 more
openalex   +1 more source

Expanding the Genotype and Phenotype Diversity in a Chinese Cohort With TRPV4‐Related Dysplasia

Clinical Genetics, EarlyView.
Exploring the genotype and phenotype diversity in a Chinese cohort with TRPV4‐related dysplasia. ABSTRACT Dominant mutations in the calcium permeable ion channel TRPV4 (transient receptor potential vanilloid 4) typically result in skeletal dysplasia or peripheral neuromuscular disease.
Lina Dong, Kwan Chun Ho, Zhijia Tan, Yanni He, Yapeng Zhou, Shijie Yin, Lin Feng, Janus Siu Him Wong, Michael Kai Tsun To   +8 more
wiley   +1 more source

Cerebellar White Matter Abnormalities in Patients with Charcot-Marie-Tooth disease [PDF]

, 2021
Hyeonjin Kim, Chang-Hyun Park, Regina E. Y. Kim, Sungeun Hwang, Yun Seo Choi, Sol-Ah Kim, Jeong Hyun Yoo, Ki Wha Chung, Byung‐Ok Choi, Hyang Woon Lee   +9 more
openalex   +1 more source