Novel TRPV6 mutations in the spectrum of transient neonatal hyperparathyroidism

• Published in: The journal of physiological sciences Vol. 70; no. 1; p. 33
• Main Authors: Suzuki, Yoshiro, Sawada, Hirotake, Tokumasu, Tomoko, Suzuki, Shigeru, Ninomiya, Shinsuke, Shirai, Masaru, Mukai, Tokuo, Saito, Claire T, Nishimura, Gen, Tominaga, Makoto
• Format: Journal Article
• Language: English
• Published: Japan Springer 09.07.2020; BioMed Central
• Subjects: Adult; Ankyrins; Birth weight; Bone density; Calcium (intracellular); Calcium - metabolism; Calcium channels; Calcium Channels - genetics; Calcium Channels - metabolism; Calcium transport; Cell death; Cloning; Families & family life; Female; Fetus - diagnostic imaging; Fetuses; Genetic aspects; Glucose; Humans; Hyperparathyroidism; Hyperparathyroidism - diagnosis; Hyperparathyroidism - genetics; Hyperparathyroidism - metabolism; Infant, Newborn; Infants (Newborn); Intracellular; Male; Membrane trafficking; Mineralization; Mutagenesis; Mutation; Neonates; Original Paper; Parathyroid hormone; Placenta; Pregnancy; Prenatal Diagnosis - methods; Thorax; Transient receptor potential proteins; TRPV Cation Channels - genetics; TRPV Cation Channels - metabolism; Ultrasonic imaging; Ventilators; Vitamin D; Vitamin deficiency; Japan; United States > US; Maternal–fetal calcium transport; Membrane trafficking; Patch-clamp recording; Transient neonatal hyperparathyroidism (TNHP); Transient receptor potential channel (TRP channel)

Maternal-fetal calcium (Ca ) transport in the placenta plays a critical role in maintaining fetal bone mineralization. Mutations in the gene encoding the transient receptor potential cation channel, subfamily V, member 6 (TRPV6) have been identified as causative mutations of transient neonatal hyper...