Chondrodysplasia Blomstrand

Last updated
Chondrodysplasia Blomstrand
Other namesBlomstrand's lethal chondrodysplasia
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner.

Chondrodysplasia Blomstrand is a rare genetic disorder characterized by a mutation of the parathyroid hormone receptor, leading to the absence of a functional PTHR1. This condition causes abnormal ossification of the endocrine system and intermembranous tissues, [1] along with accelerated skeletal maturation. [2]

Related Research Articles

<span class="mw-page-title-main">Biological anthropology</span> Branch of anthropology that studies the physical development of the human species

Biological anthropology, also known as physical anthropology, is a scientific discipline concerned with the biological and behavioral aspects of human beings, their extinct hominin ancestors, and related non-human primates, particularly from an evolutionary perspective. This subfield of anthropology systematically studies human beings from a biological perspective.

<span class="mw-page-title-main">Skeleton</span> Part of the body that forms the supporting structure

A skeleton is the structural frame that supports the body of most animals. There are several types of skeletons, including the exoskeleton, which is the stable outer shell of an organism, the endoskeleton, which forms the support structure inside the body, and the hydroskeleton, a flexible internal skeleton supported by fluid pressure. Vertebrates are animals with a vertebral column, and their skeletons are typically composed of bone and cartilage. Invertebrates are animals that lack a vertebral column. The skeletons of invertebrates vary, including hard exoskeleton shells, plated endoskeletons, or spicules. Cartilage is a rigid connective tissue that is found in the skeletal systems of vertebrates and invertebrates.

<span class="mw-page-title-main">Homology (biology)</span> Shared ancestry between a pair of structures or genes in different taxa

In biology, homology is similarity due to shared ancestry between a pair of structures or genes in different taxa. A common example of homologous structures is the forelimbs of vertebrates, where the wings of bats and birds, the arms of primates, the front flippers of whales and the forelegs of four-legged vertebrates like dogs and crocodiles are all derived from the same ancestral tetrapod structure. Evolutionary biology explains homologous structures adapted to different purposes as the result of descent with modification from a common ancestor. The term was first applied to biology in a non-evolutionary context by the anatomist Richard Owen in 1843. Homology was later explained by Charles Darwin's theory of evolution in 1859, but had been observed before this, from Aristotle onwards, and it was explicitly analysed by Pierre Belon in 1555.

<span class="mw-page-title-main">Eutheria</span> Clade of mammals in the subclass Theria

Eutheria is the clade consisting of all therian mammals that are more closely related to placentals than to marsupials.

<span class="mw-page-title-main">Vertebrate paleontology</span> Scientific study of prehistoric vertebrates

Vertebrate paleontology is the subfield of paleontology that seeks to discover, through the study of fossilized remains, the behavior, reproduction and appearance of extinct animals with vertebrae or a notochord. It also tries to connect, by using the evolutionary timeline, the animals of the past and their modern-day relatives.

<span class="mw-page-title-main">Teleost</span> Infraclass of fishes

Teleostei, members of which are known as teleosts, is, by far, the largest infraclass in the class Actinopterygii, the ray-finned fishes, and contains 96% of all extant species of fish. Teleosts are arranged into about 40 orders and 448 families. Over 26,000 species have been described. Teleosts range from giant oarfish measuring 7.6 m (25 ft) or more, and ocean sunfish weighing over 2 t, to the minute male anglerfish Photocorynus spiniceps, just 6.2 mm (0.24 in) long. Including not only torpedo-shaped fish built for speed, teleosts can be flattened vertically or horizontally, be elongated cylinders or take specialised shapes as in anglerfish and seahorses.

<span class="mw-page-title-main">Euteleostomi</span> Clade including most vertebrates

Euteleostomi is a successful clade that includes more than 90% of the living species of vertebrates. Both its major subgroups are successful today: Actinopterygii includes most extant bony fish species, and Sarcopterygii includes the tetrapods.

<span class="mw-page-title-main">Baculum</span> Cartilage in the penis

The baculum is a bone in the penis of many placental mammals. It is absent from the human penis, but present in the penises of some primates, such as the gorilla and the chimpanzee. The baculum arises from primordial cells in soft tissues of the penis, and its formation is largely influenced by androgens. The bone lies above the urethra, and it aids sexual reproduction by maintaining stiffness during sexual penetration. The homologue to the baculum in female mammals is the baubellum, a bone in the clitoris.

<span class="mw-page-title-main">Motility</span> Ability to move using metabolic energy

Motility is the ability of an organism to move independently, using metabolic energy.

The perichondrium is a layer of dense irregular connective tissue that surrounds the cartilage of developing bone. It consists of two separate layers: an outer fibrous layer and inner chondrogenic layer. The fibrous layer contains fibroblasts, which produce collagenous fibres. The chondrogenic layer remains undifferentiated and can form chondroblasts. Perichondrium can be found around the perimeter of elastic cartilage and hyaline cartilage.

<span class="mw-page-title-main">Cephalothorax</span> Arachnid tagma

The cephalothorax, also called prosoma in some groups, is a tagma of various arthropods, comprising the head and the thorax fused together, as distinct from the abdomen behind.. The word cephalothorax is derived from the Greek words for head and thorax. This fusion of the head and thorax is seen in chelicerates and crustaceans; in other groups, such as the Hexapoda, the head remains free of the thorax. In horseshoe crabs and many crustaceans, a hard shell called the carapace covers the cephalothorax.

In biology, gonochorism is a sexual system where there are only two sexes and each individual organism is either male or female. The term gonochorism is usually applied in animal species, the vast majority of which are gonochoric.

<span class="mw-page-title-main">Albright's hereditary osteodystrophy</span> Form of osteodystrophy and a rare human disease

Albright's hereditary osteodystrophy is a form of osteodystrophy, and is classified as the phenotype of pseudohypoparathyroidism type 1A; this is a condition in which the body does not respond to parathyroid hormone.

Bone morphogenetic protein receptors are serine-threonine kinase receptors. Transforming growth factor beta family proteins bind to these receptors. There are four bone morphogenetic protein receptors:

Polarornis is a genus of prehistoric bird, possibly an anserimorph. It contains a single species Polarornis gregorii, known from incomplete remains of one individual found on Seymour Island, Antarctica, in rocks which are dated to the Late Cretaceous.

<span class="mw-page-title-main">Academic discipline</span> Academic field of study or profession

An academic discipline or academic field is a subdivision of knowledge that is taught and researched at the college or university level. Disciplines are defined and recognized by the academic journals in which research is published, and the learned societies and academic departments or faculties within colleges and universities to which their practitioners belong. Academic disciplines are conventionally divided into the humanities, including language, art and cultural studies, and the scientific disciplines, such as physics, chemistry, and biology; the social sciences are sometimes considered a third category.

<span class="mw-page-title-main">Diversity of fish</span> Fish species categorized by various characteristics

Fish are very diverse animals and can be categorised in many ways. Although most fish species have probably been discovered and described, about 250 new ones are still discovered every year. According to FishBase about 34,800 species of fish had been described as of February 2022, which is more than the combined total of all other vertebrate species: mammals, amphibians, reptiles and birds.

Brian Keith Hall is the George S. Campbell Professor of Biology and University Research Professor Emeritus at Dalhousie University in Halifax, Nova Scotia. Hall has researched and extensively written on bone and cartilage formation in developing vertebrate embryos. He is an active participant in the evolutionary developmental biology (EVO-DEVO) debate on the nature and mechanisms of animal body plan formation. Hall has proposed that the neural crest tissue of vertebrates may be viewed as a fourth embryonic germ layer. As such, the neural crest - in Hall's view - plays a role equivalent to that of the endoderm, mesoderm, and ectoderm of bilaterian development and is a definitive feature of vertebrates. As such, vertebrates are the only quadroblastic, rather than triploblastic bilaterian animals. In vertebrates the neural crest serves to integrate the somatic division and visceral division together via a wide range novel vertebrate tissues.

<span class="mw-page-title-main">Fish jaw</span>

Most bony fishes have two sets of jaws made mainly of bone. The primary oral jaws open and close the mouth, and a second set of pharyngeal jaws are positioned at the back of the throat. The oral jaws are used to capture and manipulate prey by biting and crushing. The pharyngeal jaws, so-called because they are positioned within the pharynx, are used to further process the food and move it from the mouth to the stomach.

<span class="mw-page-title-main">Evolution of primates</span> Origin and diversification of primates through geologic time

The evolutionary history of the primates can be traced back 57–90 million years.

References

  1. Bilezikian, John P.; Raisz, Lawrence G.; Martin, T. John Martin (2008). Principles of Bone Biology. Academic Press. p. 610. ISBN   9780123738844.
  2. Glorieux, Francis H.; Pettifor, John M.; Jüppner, Harald (2011). Pediatric Bone: Biology & Diseases. Academic Press. p. 46. ISBN   9780123820402.